{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:12:34Z","timestamp":1792066354105,"version":"4.4.0"},"reference-count":480,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T00:00:00Z","timestamp":1695254400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5\u2019 untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor\/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.<\/jats:p>","DOI":"10.3390\/cells12182330","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T21:08:36Z","timestamp":1695330516000},"page":"2330","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":76,"title":["Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6388-9180","authenticated-orcid":false,"given":"Flora","family":"Tassone","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, 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D.","family":"Archibald","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC 3052, Australia"},{"name":"Genomics in Society Group, Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Baud","sequence":"additional","affiliation":[{"name":"Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Uniwersytetu Pozna\u0144skiego 6, 61-614 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ted W.","family":"Brown","sequence":"additional","affiliation":[{"name":"Central Clinical School, University of Sydney, Sydney, NSW 2006, Australia"},{"name":"Fragile 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features","volume":"38","author":"Cronister","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J","article-title":"Premature ovarian failure in the fragile X syndrome","volume":"97","author":"Sherman","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1002\/ajmg.b.32277","article-title":"Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions","volume":"165","author":"Mailick","year":"2014","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1093\/humrep\/deh635","article-title":"Association of FMR1 repeat size with ovarian dysfunction","volume":"20","author":"Sullivan","year":"2005","journal-title":"Hum. Reprod."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1086\/302720","article-title":"Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome","volume":"66","author":"Tassone","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","article-title":"Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X","volume":"57","author":"Hagerman","year":"2001","journal-title":"Neurology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1086\/374321","article-title":"Fragile X premutation tremor\/ataxia syndrome: Molecular, clinical, and neuroimaging correlates","volume":"72","author":"Jacquemont","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1001\/jama.291.4.460","article-title":"Penetrance of the fragile X-associated tremor\/ataxia syndrome in a premutation carrier population","volume":"291","author":"Jacquemont","year":"2004","journal-title":"JAMA"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1866-1955-6-31","article-title":"Emerging topics in FXTAS","volume":"6","author":"Hall","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1093\/brain\/awh683","article-title":"Neuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"129","author":"Greco","year":"2006","journal-title":"Brain"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Cabal-Herrera, A.M., Tassanakijpanich, N., Salcedo-Arellano, M.J., and Hagerman, R.J. (2020). Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124391"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"285","DOI":"10.2147\/CIA.S240314","article-title":"Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer\u2019s Disease","volume":"15","author":"Aydin","year":"2020","journal-title":"Clin. Intervig. Aging"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Hagerman, R.J., and Hagerman, P.J. (2020). Fragile X Syndrome and Premutation Disorders, Mac Keith Press.","DOI":"10.1002\/9781119432692.ch28"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s11689-022-09436-y","article-title":"Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor\/ataxia syndrome","volume":"14","author":"Famula","year":"2022","journal-title":"J. Neurodev. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Tassone, F., and Hall, D.A. (2016). FXTAS, FXPOI, and Other Premutation Disorders, Springer International Publishing.","DOI":"10.1007\/978-3-319-33898-9"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Wang, J., Napoli, E., Kim, K., McLennan, Y.A., Hagerman, R.J., and Giulivi, C. (2021). Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22179171"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1093\/brain\/awf184","article-title":"Neuronal intranuclear inclusions in a new cerebellar tremor\/ataxia syndrome among fragile X carriers","volume":"125","author":"Greco","year":"2002","journal-title":"Brain"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.brainres.2014.11.058","article-title":"Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor\/ataxia syndrome","volume":"1598","author":"Ariza","year":"2015","journal-title":"Brain Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1002\/mds.28559","article-title":"Cerebral Microbleeds in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"36","author":"Wang","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/mdc3.12942","article-title":"Parkinsonism Versus Concomitant Parkinson\u2019s Disease in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"7","author":"Hong","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1177\/0891988716666379","article-title":"Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"29","author":"Seritan","year":"2016","journal-title":"J. Geriatr. Psychiatry Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1002\/mdc3.13084","article-title":"Women with Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"7","author":"Schneider","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/j.celrep.2013.02.004","article-title":"Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor\/ataxia syndrome","volume":"3","author":"Sellier","year":"2013","journal-title":"Cell Rep."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.neuron.2007.07.020","article-title":"Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor\/ataxia syndrome","volume":"55","author":"Jin","year":"2007","journal-title":"Neuron"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.neuron.2007.07.021","article-title":"RNA-binding proteins hnRNP A2\/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS","volume":"55","author":"Sofola","year":"2007","journal-title":"Neuron"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Holm, K.N., Herren, A.W., Taylor, S.L., Randol, J.L., Kim, K., Espinal, G., Marti\u00ednez-Cerde\u00f1o, V., Pessah, I.N., Hagerman, R.J., and Hagerman, P.J. (2020). Human Cerebral Cortex Proteome of Fragile X-Associated Tremor\/Ataxia Syndrome. Front. Mol. Biosci., 7.","DOI":"10.3389\/fmolb.2020.600840"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.neuron.2013.03.026","article-title":"CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome","volume":"78","author":"Todd","year":"2013","journal-title":"Neuron"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e22612","DOI":"10.1096\/fj.202200468RR","article-title":"Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency","volume":"36","author":"Rosario","year":"2022","journal-title":"Faseb J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1093\/hmg\/ddr211","article-title":"Altered zinc transport disrupts mitochondrial protein processing\/import in fragile X-associated tremor\/ataxia syndrome","volume":"20","author":"Napoli","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s12311-016-0779-8","article-title":"Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"15","author":"Napoli","year":"2016","journal-title":"Cerebellum"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"3871","DOI":"10.1042\/BCJ20160585","article-title":"Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation","volume":"473","author":"Giulivi","year":"2016","journal-title":"Biochem. J."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1017\/thg.2021.10","article-title":"\u2018Essential Tremor\u2019 Phenotype in FMR1 Premutation\/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers","volume":"24","author":"Loesch","year":"2021","journal-title":"Twin Res. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"762915","DOI":"10.3389\/fpsyt.2021.762915","article-title":"Increased Pain Symptomatology among Females vs. Males with Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"12","author":"Johnson","year":"2021","journal-title":"Front. Psychiatry"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1002\/ajmg.a.32060","article-title":"Expanded clinical phenotype of women with the FMR1 premutation","volume":"146","author":"Coffey","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"123","DOI":"10.5582\/irdr.2015.01029","article-title":"Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands","volume":"4","author":"Cordeiro","year":"2015","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"S137","DOI":"10.1097\/00004703-200604002-00012","article-title":"Autism spectrum disorders and attention-deficit\/hyperactivity disorder in boys with the fragile X premutation","volume":"27","author":"Farzin","year":"2006","journal-title":"J. Dev. Behav. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ajmg.b.32061","article-title":"Depression and anxiety symptoms among women who carry the FMR1 premutation: Impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms","volume":"159","author":"Hunter","year":"2012","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Aishworiya, R., Protic, D., Tang, S.J., Schneider, A., Tassone, F., and Hagerman, R. (2022). Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers. Genes, 13.","DOI":"10.3390\/genes13122399"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1007\/s10803-006-0205-z","article-title":"Autism spectrum phenotype in males and females with fragile X full mutation and premutation","volume":"37","author":"Clifford","year":"2007","journal-title":"J. Autism Dev. Disord."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1002\/ajmg.a.32439","article-title":"Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey","volume":"146","author":"Bailey","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.b.20030","article-title":"Clinical features of boys with fragile X premutations and intermediate alleles","volume":"121","author":"Aziz","year":"2003","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s00439-011-1106-6","article-title":"Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder","volume":"131","author":"Chonchaiya","year":"2012","journal-title":"Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1866-1955-6-27","article-title":"Genomic studies in fragile X premutation carriers","volume":"6","author":"Lozano","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"R169","DOI":"10.1093\/hmg\/ddp326","article-title":"Mitochondrial dynamics\u2014Fusion, fission, movement, and mitophagy\u2014In neurodegenerative diseases","volume":"18","author":"Chen","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"548","DOI":"10.2119\/molmed.2016.00122","article-title":"Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor\/ataxia syndrome: Use of antioxidants in precision medicine","volume":"22","author":"Song","year":"2016","journal-title":"Mol. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1097\/ANA.0000000000000508","article-title":"General Anesthetic Use in Fragile X Spectrum Disorders","volume":"31","author":"Ligsay","year":"2019","journal-title":"J. Neurosurg. Anesth."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"162","DOI":"10.5582\/irdr.2014.01023","article-title":"Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases","volume":"3","author":"Muzar","year":"2014","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1002\/ajmg.a.37030","article-title":"Methadone use in a male with the FMRI premutation and FXTAS","volume":"167","author":"Muzar","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"766802","DOI":"10.3389\/fnins.2021.766826","article-title":"Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse","volume":"15","author":"Sethi","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ijdevneu.2018.10.002","article-title":"Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia","volume":"72","author":"Saldarriaga","year":"2019","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.neuro.2016.01.008","article-title":"Phenobarbital use and neurological problems in FMR1 premutation carriers","volume":"53","author":"Saldarriaga","year":"2016","journal-title":"Neurotoxicology"},{"key":"ref_53","first-page":"1689","article-title":"Fragile X Premutation: Medications, Therapy and Lifestyle Advice","volume":"14","author":"Sodhi","year":"2021","journal-title":"Pharmgenom. Pers. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/j.1471-4159.2012.07936.x","article-title":"Early mitochondrial abnormalities in hippocampal neurons cultured from FMR1 pre-mutation mouse model","volume":"123","author":"Kaplan","year":"2012","journal-title":"J. Neurochem."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2923","DOI":"10.1093\/hmg\/dds118","article-title":"Clustered burst firing in FMR1 premutation hippocampal neurons: Amelioration with allopregnanolone","volume":"21","author":"Cao","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"4676","DOI":"10.1007\/s00415-022-11209-5","article-title":"Autism spectrum disorder in the fragile X premutation state: Possible mechanisms and implications","volume":"269","author":"Aishworiya","year":"2022","journal-title":"J. Neurol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1080\/21641846.2014.881155","article-title":"Fatigue and body mass index in the Fragile X premutation carrier","volume":"2","author":"Summers","year":"2014","journal-title":"Fatigue Biomed. Health Behav."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/cge.12249","article-title":"Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation","volume":"86","author":"Summers","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Hagerman, R.J., and Hagerman, P.J. (2020). Fragile X Syndrome and Premutation Disorders: New Developments and Treatments, Mac Keith Press.","DOI":"10.1002\/9781119432692.ch28"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"564","DOI":"10.3389\/fpsyt.2018.00564","article-title":"Fragile X-Associated Neuropsychiatric Disorders (FXAND)","volume":"9","author":"Hagerman","year":"2018","journal-title":"Front. Psychiatry"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1002\/ajmg.a.35569","article-title":"Immune-mediated disorders among women carriers of fragile X premutation alleles","volume":"158","author":"Winarni","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1002\/ajmg.a.35323","article-title":"Hypertension in FMR1 premutation males with and without fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"158","author":"Hamlin","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1111\/cge.12109","article-title":"Prevalence and risk of migraine headaches in adult fragile X premutation carriers","volume":"84","author":"Au","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1136\/jmedgenet-2020-107609","article-title":"Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: Case series","volume":"59","author":"Tassanakijpanich","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.jaccas.2019.11.058","article-title":"Spontaneous Coronary Artery Dissection in Females with the Fragile X FMR1 Premutation","volume":"2","author":"McKenzie","year":"2020","journal-title":"JACC Case Rep."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1007\/s00401-011-0860-9","article-title":"Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor\/ataxia syndrome and CGG knock-in mice","volume":"122","author":"Hunsaker","year":"2011","journal-title":"Acta Neuropathol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"852","DOI":"10.4088\/JCP.08r04476","article-title":"A review of fragile X premutation disorders: Expanding the psychiatric perspective","volume":"70","author":"Bourgeois","year":"2009","journal-title":"J. Clin. Psychiatry"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"175","DOI":"10.4088\/JCP.09m05407blu","article-title":"Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers","volume":"72","author":"Bourgeois","year":"2011","journal-title":"J. Clin. Psychiatry"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/ajmg.b.32070","article-title":"Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism","volume":"159","author":"Losh","year":"2012","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.biopsych.2015.07.015","article-title":"Trajectory and Predictors of Depression and Anxiety Disorders in Mothers with the FMR1 Premutation","volume":"79","author":"Roberts","year":"2016","journal-title":"Biol. Psychiatry"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1002\/ajmg.b.32496","article-title":"Psychiatric disorders among women with the\u2009fragile X premutation without children affected by fragile X syndrome","volume":"171","author":"Gossett","year":"2016","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ajmg.b.32203","article-title":"Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers","volume":"165","author":"Kraan","year":"2014","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"eaaw7195","DOI":"10.1126\/sciadv.aaw7195","article-title":"Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample","volume":"5","author":"Movaghar","year":"2019","journal-title":"Sci. Adv."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/cge.12347","article-title":"Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion","volume":"87","author":"Loesch","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"266","DOI":"10.3389\/fped.2020.00266","article-title":"Fragile X Premutation Associated Conditions (FXPAC)","volume":"8","author":"Johnson","year":"2020","journal-title":"Front. Pediatr."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1093\/hmg\/10.14.1449","article-title":"Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers","volume":"10","author":"Kenneson","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00439-004-1086-x","article-title":"A study of the distributional characteristics of FMR1 transcript levels in 238 individuals","volume":"114","author":"Allen","year":"2004","journal-title":"Hum. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1261\/rna.280807","article-title":"Elevated FMR1 mRNA in premutation carriers is due to increased transcription","volume":"13","author":"Tassone","year":"2007","journal-title":"Rna"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1017\/S1355838202020642","article-title":"Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations","volume":"8","author":"Primerano","year":"2002","journal-title":"Rna"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/jhg.2009.121","article-title":"Examination of FMR1 transcript and protein levels among 74 premutation carriers","volume":"55","author":"Peprah","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1866-1955-6-24","article-title":"AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission","volume":"6","author":"Yrigollen","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/gim.2014.106","article-title":"Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers","volume":"17","author":"Nolin","year":"2015","journal-title":"Genet. Med."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Yrigollen, C.M., Tassone, F., Durbin-Johnson, B., and Tassone, F. (2011). The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0021728"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"6896","DOI":"10.1093\/nar\/gkp713","article-title":"Translation of the FMR1 mRNA is not influenced by AGG interruptions","volume":"37","author":"Ludwig","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"3174","DOI":"10.1093\/hmg\/ddm293","article-title":"An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals","volume":"16","author":"Ladd","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"10419","DOI":"10.1038\/s41598-022-14183-0","article-title":"Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation","volume":"12","author":"Hwang","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1007\/s12035-022-03176-9","article-title":"Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene","volume":"60","author":"Zafarullah","year":"2023","journal-title":"Mol. Neurobiol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"16676","DOI":"10.1096\/fj.202001880R","article-title":"Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS)","volume":"34","author":"Zafarullah","year":"2020","journal-title":"Faseb J."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e246","DOI":"10.1212\/NXG.0000000000000246","article-title":"ASFMR1 splice variant: A predictor of fragile X-associated tremor\/ataxia syndrome","volume":"4","author":"Vittal","year":"2018","journal-title":"Neurol. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmedgenet-2013-102021","article-title":"CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles","volume":"51","author":"Pretto","year":"2014","journal-title":"J. Med. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"7050","DOI":"10.1038\/s41598-023-33528-x","article-title":"Clinical implications of somatic allele expansion in female FMR1 premutation carriers","volume":"13","author":"Aishworiya","year":"2023","journal-title":"Sci. Rep."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<296::AID-AJMG13>3.0.CO;2-A","article-title":"Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin","volume":"64","author":"Dobkin","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J","article-title":"A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood","volume":"64","author":"Maddalena","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<233::AID-AJMG14>3.0.CO;2-6","article-title":"Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome","volume":"84","author":"Taylor","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"442","DOI":"10.3389\/fgene.2018.00442","article-title":"FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene","volume":"9","author":"Gennaro","year":"2018","journal-title":"Front. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ensci.2017.04.003","article-title":"Clinical and molecular correlates in fragile X premutation females","volume":"7","author":"Jiraanont","year":"2017","journal-title":"eNeurologicalSci"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s11689-018-9240-2","article-title":"Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome","volume":"10","author":"Thurman","year":"2018","journal-title":"J. Neurodev. Disord."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon","year":"1961","journal-title":"Nature"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1391807","DOI":"10.1155\/2022\/1391807","article-title":"X-Chromosome Inactivation and Related Diseases","volume":"2022","author":"Sun","year":"2022","journal-title":"Genet. Res."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng0893-335","article-title":"The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation","volume":"4","author":"Devys","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0165-1781(99)00067-0","article-title":"Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females","volume":"87","author":"Franke","year":"1999","journal-title":"Psychiatry Res."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/mrdd.20006","article-title":"Phenotypic variation and FMRP levels in fragile X","volume":"10","author":"Loesch","year":"2004","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.jmoldx.2011.05.006","article-title":"FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles","volume":"13","author":"Godler","year":"2011","journal-title":"J. Mol. Diagn."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ana.20360","article-title":"Fragile X-associated tremor\/ataxia syndrome in sisters related to X-inactivation","volume":"57","author":"Potanos","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1212\/NXG.0000000000000045","article-title":"X-inactivation in the clinical phenotype of fragile X premutation carrier sisters","volume":"2","author":"Hall","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ajmg.1320510407","article-title":"Molecular-neurobehavioral associations in females with the fragile X full mutation","volume":"51","author":"Abrams","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"E88","DOI":"10.1542\/peds.108.5.e88","article-title":"The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome","volume":"108","author":"Hessl","year":"2001","journal-title":"Pediatrics"},{"key":"ref_108","first-page":"108","article-title":"Fragile-X syndrome and skewed X-chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome","volume":"122","author":"Busquets","year":"2003","journal-title":"Am. J. Med. Genet. Part. A"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1007\/s10803-005-0011-z","article-title":"Brief report: Non-random X chromosome inactivation in females with autism","volume":"35","author":"Talebizadeh","year":"2005","journal-title":"J. Autism Dev. Disord."},{"key":"ref_110","first-page":"99","article-title":"Fragile X syndrome in females\u2014A familial case report and review of the literature","volume":"20","author":"Stembalska","year":"2016","journal-title":"Dev. Period. Med."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<340::AID-AJMG21>3.0.CO;2-E","article-title":"Molecular\/clinical correlations in females with fragile X","volume":"64","author":"Sobesky","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"43","DOI":"10.2353\/jmoldx.2008.070073","article-title":"A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations","volume":"10","author":"Tassone","year":"2008","journal-title":"J. Mol. Diagn."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1093\/hmg\/ddq037","article-title":"Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio","volume":"19","author":"Godler","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13148-016-0280-8","article-title":"A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings","volume":"8","author":"Hadd","year":"2016","journal-title":"Clin. Epigenetics"},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Protic, D., Polli, R., Hwang, Y.H., Mendoza, G., Hagerman, R., Durbin-Johnson, B., Hayward, B.E., Usdin, K., Murgia, A., and Tassone, F. (2023). Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells, 12.","DOI":"10.3390\/cells12131711"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1038\/nrneurol.2016.82","article-title":"Fragile X-associated tremor\/ataxia syndrome\u2014Features, mechanisms and management","volume":"12","author":"Hagerman","year":"2016","journal-title":"Nat. Rev. Neurol."},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Loomis, E.W., Sanz, L.A., Ch\u00e9din, F., and Hagerman, P.J. (2014). Transcription-associated R-loop formation across the human FMR1 CGG-repeat region. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004294"},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Malik, I., Kelley, C.P., Wang, E.T., and Todd, P.K. (2021). Author Correction: Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat. Rev. Mol. Cell Biol., 22.","DOI":"10.1038\/s41580-021-00396-0"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/brain\/awh650","article-title":"Protein composition of the intranuclear inclusions of FXTAS","volume":"129","author":"Iwahashi","year":"2006","journal-title":"Brain"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/emboj.2010.21","article-title":"Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients","volume":"29","author":"Sellier","year":"2010","journal-title":"Embo J."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1093\/hmg\/dds024","article-title":"Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila","volume":"21","author":"Qurashi","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Tan, H., Poidevin, M., Li, H., Chen, D., and Jin, P. (2012). MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002681"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"6857","DOI":"10.1128\/MCB.23.19.6857-6875.2003","article-title":"Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse","volume":"23","author":"Khalili","year":"2003","journal-title":"Mol. Cell Biol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/hmg\/ddr476","article-title":"Lack of Pur-alpha alters postnatal brain development and causes megalencephaly","volume":"21","author":"Hokkanen","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"5906","DOI":"10.1093\/hmg\/ddu314","article-title":"CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome","volume":"23","author":"Galloway","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"5036","DOI":"10.1093\/hmg\/ddu216","article-title":"TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2\/B1","volume":"23","author":"He","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1073\/pnas.1013343108","article-title":"Non-ATG-initiated translation directed by microsatellite expansions","volume":"108","author":"Zu","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1038\/s41374-019-0241-x","article-title":"Repeat-associated non-AUG (RAN) translation: Insights from pathology","volume":"99","author":"Ranum","year":"2019","journal-title":"Lab. Investig."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.molcel.2016.02.034","article-title":"CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins","volume":"62","author":"Kearse","year":"2016","journal-title":"Mol. Cell"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/s40478-019-0782-7","article-title":"Neuropathology of RAN translation proteins in fragile X-associated tremor\/ataxia syndrome","volume":"7","author":"Krans","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"8674","DOI":"10.1093\/nar\/gkac626","article-title":"CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins","volume":"50","author":"Wright","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.neuron.2016.12.016","article-title":"Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome","volume":"93","author":"Sellier","year":"2017","journal-title":"Neuron"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1093\/humrep\/dev280","article-title":"Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency","volume":"31","author":"Buijsen","year":"2016","journal-title":"Hum. Reprod."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1186\/s40478-019-0796-1","article-title":"Composition of the Intranuclear Inclusions of Fragile X-associated Tremor\/Ataxia Syndrome","volume":"7","author":"Ma","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1093\/hmg\/ddab353","article-title":"Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome","volume":"31","author":"Zhang","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"eabd9440","DOI":"10.1126\/sciadv.abd9440","article-title":"CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor\/ataxia syndrome","volume":"7","author":"Asamitsu","year":"2021","journal-title":"Sci. Adv."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"e47498","DOI":"10.15252\/embr.201847498","article-title":"DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation","volume":"20","author":"Linsalata","year":"2019","journal-title":"EMBO Rep."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/s41593-020-0590-1","article-title":"A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis","volume":"23","author":"Rodriguez","year":"2020","journal-title":"Nat. Neurosci."},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Haify, S.N., Mankoe, R.S.D., Boumeester, V., van der Toorn, E.C., Verhagen, R.F.M., Willemsen, R., Hukema, R.K., and Bosman, L.W.J. (2020). Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates. Front. Mol. Biosci., 7.","DOI":"10.3389\/fmolb.2020.599101"},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Tseng, Y.J., Sandwith, S.N., Green, K.M., Chambers, A.E., Krans, A., Raimer, H.M., Sharlow, M.E., Reisinger, M.A., Richardson, A.E., and Routh, E.D. (2021). The RNA helicase DHX36-G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat-associated translation. J. Biol. Chem., 297.","DOI":"10.1101\/2021.04.25.441260"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1038\/s41467-017-02200-0","article-title":"RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response","volume":"8","author":"Green","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"691717","DOI":"10.3389\/fpsyt.2021.691717","article-title":"Metabolomic Biomarkers Are Associated with Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS","volume":"12","author":"Zafarullah","year":"2021","journal-title":"Front. Psychiatry"},{"key":"ref_143","unstructured":"(March, January 27). In Proceedings of the 5th International Conference on FMR1 Premutation: Molecular Mechanism, Clinical Involvements and Target. Waitangi, New Zealand."},{"key":"ref_144","doi-asserted-by":"crossref","unstructured":"Zafarullah, M., Li, J., Salemi, M., Phinney, B., Durbin-Johnson, B.P., Hagerman, R., Hessl, D., Rivera, S.M., and Tassone, F. (2023). Blood proteome profiling reveals biomarkers and pathways alterations in Fragile X premutation carriers at risk for developing FXTAS. Int. J. Mol. Biol., 24.","DOI":"10.3390\/ijms241713477"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1038\/s41467-021-21021-w","article-title":"Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats","volume":"12","author":"Derbis","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"e2118124119","DOI":"10.1073\/pnas.2118124119","article-title":"Identification of PSMB5 as a genetic modifier of fragile X-associated tremor\/ataxia syndrome","volume":"119","author":"Kong","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"9479","DOI":"10.1093\/nar\/gkab669","article-title":"Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation","volume":"49","author":"Konieczny","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"2146","DOI":"10.1212\/WNL.0000000000001612","article-title":"White matter disease and cognitive impairment in FMR1 premutation carriers","volume":"84","author":"Filley","year":"2015","journal-title":"Neurology"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1093\/hmg\/ddy410","article-title":"Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor\/ataxia syndrome","volume":"28","author":"Kong","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","unstructured":"Fan, J., Tao, W., Li, X., Li, H., Zhang, J., Wei, D., Chen, Y., and Zhang, Z. (2019). The Contribution of Genetic Factors to Cognitive Impairment and Dementia: Apolipoprotein E Gene, Gene Interactions, and Polygenic Risk. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20051177"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/nrneurol.2012.263","article-title":"Apolipoprotein E and Alzheimer disease: Risk, mechanisms and therapy","volume":"9","author":"Liu","year":"2013","journal-title":"Nat. Rev. Neurol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13024-022-00574-4","article-title":"ApoE in Alzheimer\u2019s disease: Pathophysiology and therapeutic strategies","volume":"17","author":"Raulin","year":"2022","journal-title":"Mol. Neurodegener."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41586-022-05439-w","article-title":"APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes","volume":"611","author":"Blanchard","year":"2022","journal-title":"Nature"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/j.1601-183X.2012.00779.x","article-title":"Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS","volume":"11","author":"Tassone","year":"2012","journal-title":"Genes. Brain Behav."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/gim.2013.12","article-title":"High apolipoprotein E4 allele frequency in FXTAS patients","volume":"15","author":"Silva","year":"2013","journal-title":"Genet. Med."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.stemcr.2014.09.001","article-title":"FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells","volume":"3","author":"Avitzour","year":"2014","journal-title":"Stem Cell Rep."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"3795","DOI":"10.1093\/hmg\/dds207","article-title":"Signaling defects in iPSC-derived fragile X premutation neurons","volume":"21","author":"Liu","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1083\/jcb.201404157","article-title":"Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation","volume":"206","author":"Gerhardt","year":"2014","journal-title":"J. Cell Biol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.molcel.2013.10.029","article-title":"The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells","volume":"53","author":"Gerhardt","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"1247125","DOI":"10.1126\/science.1247125","article-title":"Organogenesis in a dish: Modeling development and disease using organoid technologies","volume":"345","author":"Lancaster","year":"2014","journal-title":"Science"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1001\/archneur.64.7.1002","article-title":"Screen for excess FMR1 premutation alleles among males with parkinsonism","volume":"64","author":"Kraff","year":"2007","journal-title":"Arch. Neurol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1038\/nm.3739","article-title":"Ubiquitination in disease pathogenesis and treatment","volume":"20","author":"Popovic","year":"2014","journal-title":"Nat. Med."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.brainres.2009.12.077","article-title":"Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation","volume":"1318","author":"Wenzel","year":"2010","journal-title":"Brain Res."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/BF00455263","article-title":"Human milk anti-E. coli antibodies: Relationship to maternal parity","volume":"130","author":"Vardinon","year":"1979","journal-title":"Eur. J. Pediatr."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"2522","DOI":"10.1523\/JNEUROSCI.19-07-02522.1999","article-title":"Nuclear and neuropil aggregates in Huntington\u2019s disease: Relationship to neuropathology","volume":"19","author":"Gutekunst","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"e69","DOI":"10.1093\/brain\/awaa210","article-title":"NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor\/ataxia syndrome","volume":"143","author":"Ng","year":"2020","journal-title":"Brain"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/s41580-021-00382-6","article-title":"Molecular mechanisms underlying nucleotide repeat expansion disorders","volume":"22","author":"Malik","year":"2021","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ana.21948","article-title":"RNA-mediated neurodegeneration in repeat expansion disorders","volume":"67","author":"Todd","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1126\/science.289.5485.1769","article-title":"Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat","volume":"289","author":"Mankodi","year":"2000","journal-title":"Science"},{"key":"ref_171","first-page":"385","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"69","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1038\/ng1857","article-title":"Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy","volume":"38","author":"Mahadevan","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"4317","DOI":"10.1093\/hmg\/ddv165","article-title":"RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome","volume":"24","author":"Oh","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_174","doi-asserted-by":"crossref","unstructured":"Koehorst, E., N\u00fa\u00f1ez-Manch\u00f3n, J., Ballester-L\u00f3pez, A., Almendrote, M., Lucente, G., Arbex, A., Chojnacki, J., V\u00e1zquez-Manrique, R.P., G\u00f3mez-Escribano, A.P., and Pintos-Morell, G. (2021). Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1. J. Clin. Med., 10.","DOI":"10.3390\/jcm10235520"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/S0002-9440(10)63894-1","article-title":"Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy","volume":"162","author":"Furling","year":"2003","journal-title":"Am. J. Pathol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1002\/mds.21037","article-title":"A case of fragile X premutation tremor\/ataxia syndrome with evidence of mitochondrial dysfunction","volume":"21","author":"Rizzo","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1042\/BJ20091960","article-title":"Evidence of mitochondrial dysfunction in fragile X-associated tremor\/ataxia syndrome","volume":"429","author":"Wong","year":"2010","journal-title":"Biochem. J."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1093\/hmg\/ddp479","article-title":"Murine hippocampal neurons expressing FMR1 gene premutations show early developmental deficits and late degeneration","volume":"19","author":"Chen","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"e12565","DOI":"10.1111\/gbb.12565","article-title":"Fragile X-associated tremor\/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations","volume":"18","author":"Podlesniy","year":"2019","journal-title":"Genes. Brain Behav."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1159\/000446803","article-title":"Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"17","author":"Loesch","year":"2017","journal-title":"Neurodegener. Dis."},{"key":"ref_181","doi-asserted-by":"crossref","unstructured":"Fisher, P.R., Allan, C.Y., Sanislav, O., Atkinson, A., Ngoei, K.R.W., Kemp, B.E., Storey, E., Loesch, D.Z., and Annesley, S.J. (2021). Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene. Int. J. Mol. Sci., 22.","DOI":"10.20944\/preprints202109.0401.v1"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"747268","DOI":"10.3389\/fpsyt.2021.747268","article-title":"Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers","volume":"12","author":"Loesch","year":"2021","journal-title":"Front. Psychiatry"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"3422","DOI":"10.1016\/j.celrep.2018.11.076","article-title":"An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"25","author":"Lang","year":"2018","journal-title":"Cell Rep."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"24895","DOI":"10.3390\/ijms161024895","article-title":"MicroRNAs Regulate Mitochondrial Function in Cerebral Ischemia-Reperfusion Injury","volume":"16","author":"Hu","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"3016","DOI":"10.1101\/gad.1262504","article-title":"The Drosha-DGCR8 complex in primary microRNA processing","volume":"18","author":"Han","year":"2004","journal-title":"Genes Dev."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"336","DOI":"10.3389\/fncel.2015.00336","article-title":"SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis","volume":"9","author":"Tafuri","year":"2015","journal-title":"Front. Cell Neurosci."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1016\/j.bbadis.2019.02.010","article-title":"FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor\/ataxia syndrome [FXTAS]","volume":"1865","author":"Gohel","year":"2019","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1097\/NEN.0000000000000091","article-title":"Metabolomics of human brain aging and age-related neurodegenerative diseases","volume":"73","author":"Ferrer","year":"2014","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1007\/s13238-015-0185-x","article-title":"Functional metabolomics: From biomarker discovery to metabolome reprogramming","volume":"6","author":"Peng","year":"2015","journal-title":"Protein Cell"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"3334","DOI":"10.1096\/fj.201600315R","article-title":"Warburg effect linked to cognitive-executive deficits in FMR1 premutation","volume":"30","author":"Napoli","year":"2016","journal-title":"Faseb J."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"3702","DOI":"10.1007\/s12035-018-1330-3","article-title":"Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor\/Ataxia Syndrome: A Pilot Study","volume":"56","author":"Napoli","year":"2019","journal-title":"Mol. Neurobiol."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s12311-021-01262-7","article-title":"Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"21","author":"Abbasi","year":"2022","journal-title":"Cerebellum"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.ajhg.2020.04.011","article-title":"Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy","volume":"106","author":"Deng","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1038\/s41588-019-0458-z","article-title":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease","volume":"51","author":"Ishiura","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease","volume":"51","author":"Sone","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1002\/cne.25406","article-title":"Tonotopic differentiation of presynaptic neurotransmitter-releasing machinery in the auditory brainstem during the prehearing period and its selective deficits in FMR1 knockout mice","volume":"530","author":"Yu","year":"2022","journal-title":"J. Comp. Neurol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ana.26436","article-title":"GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy","volume":"92","author":"Zeng","year":"2022","journal-title":"Ann. Neurol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.1038\/s41598-021-82050-5","article-title":"Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease","volume":"11","author":"Annear","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/nrg1689","article-title":"Repeat instability: Mechanisms of dynamic mutations","volume":"6","author":"Pearson","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"994","DOI":"10.7196\/SAMJ.7144","article-title":"Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review","volume":"103","author":"Essop","year":"2013","journal-title":"S. Afr. Med. J."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1038\/gim.2018.52","article-title":"FMR1 allele size distribution in 35,000 males and females: A comparison of developmental delay and general population cohorts","volume":"20","author":"Kraan","year":"2018","journal-title":"Genet. Med."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1038\/ejhg.2011.41","article-title":"Intermediate FMR1 alleles and cognitive and\/or behavioural phenotypes","volume":"19","author":"Madrigal","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1007\/s10803-012-1580-2","article-title":"Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study","volume":"43","author":"Tassone","year":"2013","journal-title":"J. Autism Dev. Disord."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"351","DOI":"10.3389\/fgene.2018.00351","article-title":"Sensory Difficulties in Children with an FMR1 Premutation","volume":"9","author":"Raspa","year":"2018","journal-title":"Front. Genet."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ajmg.a.32240","article-title":"Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis","volume":"146","author":"Bailey","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.neubiorev.2013.01.010","article-title":"Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome","volume":"37","author":"Kraan","year":"2013","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/ajmg.a.31082","article-title":"Arithmetic difficulties in females with the fragile X premutation","volume":"140","author":"Lachiewicz","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1866-1955-6-30","article-title":"Associated features in females with an FMR1 premutation","volume":"6","author":"Wheeler","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1212\/WNL.0000000000001496","article-title":"Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women","volume":"84","author":"Cornish","year":"2015","journal-title":"Neurology"},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1111\/desc.12058","article-title":"The development of stranger fear in infancy and toddlerhood: Normative development, individual differences, antecedents, and outcomes","volume":"16","author":"Brooker","year":"2013","journal-title":"Dev. Sci."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1037\/emo0000135","article-title":"Early social fear predicts kindergarteners\u2019 socially anxious behaviors: Direct associations, moderation by inhibitory control, and differences from nonsocial fear","volume":"16","author":"Brooker","year":"2016","journal-title":"Emotion"},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1007\/s10803-021-04980-3","article-title":"Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes","volume":"52","author":"Klusek","year":"2022","journal-title":"J. Autism Dev. Disord."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"718485","DOI":"10.3389\/fpsyt.2021.718485","article-title":"The Phenotypic Profile Associated with the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities","volume":"12","author":"Maltman","year":"2021","journal-title":"Front. Psychiatry"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1111\/jcpp.13262","article-title":"Research Review: Pediatric anxiety disorders\u2014What have we learnt in the last 10 years?","volume":"62","author":"Strawn","year":"2021","journal-title":"J. Child. Psychol. Psychiatry"},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1037\/0003-066X.60.6.601","article-title":"Children\u2019s mental health as a primary care and concern: A system for comprehensive support and service","volume":"60","author":"Tolan","year":"2005","journal-title":"Am. Psychol."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.jaac.2020.05.005","article-title":"Clinical Practice Guideline for the Assessment and Treatment of Children and Adolescents with Anxiety Disorders","volume":"59","author":"Walter","year":"2020","journal-title":"J. Am. Acad. Child. Adolesc. Psychiatry"},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/mds.21252","article-title":"Progression of tremor and ataxia in male carriers of the FMR1 premutation","volume":"22","author":"Leehey","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1007\/s12311-015-0659-7","article-title":"Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers with and without Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS)","volume":"14","author":"Dunn","year":"2015","journal-title":"Cerebellum"},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"365","DOI":"10.3389\/fgene.2014.00365","article-title":"New observations in the fragile X-associated tremor\/ataxia syndrome (FXTAS) phenotype","volume":"5","author":"Fraint","year":"2014","journal-title":"Front. Genet."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"e661","DOI":"10.1097\/WNO.0000000000001082","article-title":"Eye Movements in Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"41","author":"Hall","year":"2021","journal-title":"J. Neuroophthalmol."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1037\/neu0000066","article-title":"Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS","volume":"28","author":"Wong","year":"2014","journal-title":"Neuropsychology"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"105675","DOI":"10.1016\/j.bandc.2020.105675","article-title":"Response Inhibition Deficits in Women with the FMR1 Premutation are Associated with Age and Fall Risk","volume":"148","author":"Moser","year":"2021","journal-title":"Brain Cogn."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.jns.2006.05.016","article-title":"Impairment in the cognitive functioning of men with fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"248","author":"Grigsby","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1037\/0894-4105.22.1.48","article-title":"Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor\/ataxia syndrome","volume":"22","author":"Grigsby","year":"2008","journal-title":"Neuropsychology"},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/mds.21359","article-title":"Impairment of executive cognitive functioning in males with fragile X-associated tremor\/ataxia syndrome","volume":"22","author":"Grigsby","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1093\/brain\/121.4.561","article-title":"The cerebellar cognitive affective syndrome","volume":"121","author":"Schmahmann","year":"1998","journal-title":"Brain"},{"key":"ref_227","doi-asserted-by":"crossref","unstructured":"Hocking, D.R., Loesch, D.Z., Stimpson, P., Tassone, F., Atkinson, A., and Storey, E. (2022). Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor\/Ataxia Syndrome. Brain Sci., 12.","DOI":"10.3390\/brainsci12111549"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s40673-021-00138-0","article-title":"Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways","volume":"8","author":"Storey","year":"2021","journal-title":"Cerebellum Ataxias"},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"742929","DOI":"10.3389\/fpsyt.2021.742929","article-title":"Delineating the Relationships between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers","volume":"12","author":"Hocking","year":"2021","journal-title":"Front. Psychiatry"},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.parkreldis.2019.05.010","article-title":"The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"65","year":"2019","journal-title":"Park. Relat. Disord."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1212\/WNL.0b013e318271f7ff","article-title":"FXTAS: New insights and the need for revised diagnostic criteria","volume":"79","author":"Apartis","year":"2012","journal-title":"Neurology"},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10048-010-0270-5","article-title":"New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)","volume":"12","author":"Juncos","year":"2011","journal-title":"Neurogenetics"},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.parkreldis.2010.07.006","article-title":"FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients","volume":"16","author":"Hall","year":"2010","journal-title":"Park. Relat. Disord."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1212\/01.wnl.0000188821.51055.52","article-title":"Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers","volume":"65","author":"Ceravolo","year":"2005","journal-title":"Neurology"},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jnnp-2018-319008","article-title":"Cognitive decline in Parkinson\u2019s disease: The impact of the motor phenotype on cognition","volume":"90","author":"Wojtala","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1136\/jmg.2006.042374","article-title":"Size bias of fragile X premutation alleles in late-onset movement disorders","volume":"43","author":"Jacquemont","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1212\/01.wnl.0000281692.98200.f5","article-title":"FMR1 CGG repeat length predicts motor dysfunction in premutation carriers","volume":"70","author":"Leehey","year":"2008","journal-title":"Neurology"},{"key":"ref_238","doi-asserted-by":"crossref","unstructured":"Loesch, D.Z., Tassone, F., Atkinson, A., Stimpson, P., Trost, N., Pountney, D.L., and Storey, E. (2020). Differential Progression of Motor Dysfunction between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement. Front. Mol. Biosci., 7.","DOI":"10.3389\/fmolb.2020.577246"},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.cortex.2006.11.002","article-title":"Age-dependent cognitive changes in carriers of the fragile X syndrome","volume":"44","author":"Cornish","year":"2008","journal-title":"Cortex"},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1212\/WNL.0b013e3182299e59","article-title":"Selective executive markers of at-risk profiles associated with the fragile X premutation","volume":"77","author":"Cornish","year":"2011","journal-title":"Neurology"},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.bandc.2010.05.008","article-title":"Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS","volume":"73","author":"Kogan","year":"2010","journal-title":"Brain Cogn."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ajmg.b.30685","article-title":"Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor\/Ataxia syndrome: A controlled study","volume":"147","author":"Kogan","year":"2008","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.pscychresns.2019.01.011","article-title":"Decreased functional brain response to emotional arousal and increased psychiatric symptomology in FMR1 premutation carriers","volume":"285","author":"Brown","year":"2019","journal-title":"Psychiatry Res. Neuroimaging"},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.jpsychires.2010.04.030","article-title":"An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"45","author":"Hashimoto","year":"2011","journal-title":"J. Psychiatr. Res."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1016\/j.jpsychires.2013.08.014","article-title":"Altered neural activity of magnitude estimation processing in adults with the fragile X premutation","volume":"47","author":"Kim","year":"2013","journal-title":"J. Psychiatr. Res."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s11682-008-9020-9","article-title":"Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation","volume":"2","author":"Koldewyn","year":"2008","journal-title":"Brain Imaging Behav."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"1135630","DOI":"10.3389\/fneur.2023.1135630","article-title":"An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion","volume":"14","author":"Gabis","year":"2023","journal-title":"Front. Neurol."},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.nlm.2017.07.002","article-title":"Long term verbal memory recall deficits in fragile X premutation females","volume":"144","author":"Shelton","year":"2017","journal-title":"Neurobiol. Learn. Mem."},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.bandc.2013.12.006","article-title":"Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements","volume":"85","author":"Shelton","year":"2014","journal-title":"Brain Cogn."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.bbr.2015.01.011","article-title":"Delineation of the working memory profile in female FMR1 premutation carriers: The effect of cognitive load on ocular motor responses","volume":"282","author":"Shelton","year":"2015","journal-title":"Behav. Brain Res."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s12311-016-0782-0","article-title":"Executive Dysfunction in Female FMR1 Premutation Carriers","volume":"15","author":"Shelton","year":"2016","journal-title":"Cerebellum"},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.bandc.2013.02.009","article-title":"Language dysfluencies in females with the FMR1 premutation","volume":"82","author":"Sterling","year":"2013","journal-title":"Brain Cogn."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/ana.23933","article-title":"Phenotypes of hypofrontality in older female fragile X premutation carriers","volume":"74","author":"Yang","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"105511","DOI":"10.1016\/j.bandc.2019.105511","article-title":"Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome","volume":"139","author":"Klusek","year":"2020","journal-title":"Brain Cogn."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"344","DOI":"10.3389\/fgene.2018.00344","article-title":"Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range","volume":"9","author":"Klusek","year":"2018","journal-title":"Front. Genet."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1352\/1944-7558-128.1.1","article-title":"FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers","volume":"128","author":"Maltman","year":"2023","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_257","first-page":"63","article-title":"Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task","volume":"5","author":"Wong","year":"2011","journal-title":"Front. Hum. Neurosci."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.bandc.2011.01.001","article-title":"Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments","volume":"75","author":"Wong","year":"2011","journal-title":"Brain Cogn."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"105694","DOI":"10.1016\/j.bandc.2021.105694","article-title":"Word retrieval difficulty in adult females with the FMR1 premutation: Changes over time and across contexts","volume":"148","author":"Warren","year":"2021","journal-title":"Brain Cogn."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s11689-022-09415-3","article-title":"Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation","volume":"14","author":"Klusek","year":"2022","journal-title":"J. Neurodev. Disord."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"105851","DOI":"10.1016\/j.bandc.2022.105851","article-title":"Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study","volume":"159","author":"Maltman","year":"2022","journal-title":"Brain Cogn."},{"key":"ref_262","doi-asserted-by":"crossref","unstructured":"Segal, O., Kowal, T., Banet-Levi, Y., and Gabis, L.V. (2023). Executive Function and Working Memory Deficits in Females with Fragile X Premutation. Life, 13.","DOI":"10.3390\/life13030813"},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1080\/13854046.2016.1185100","article-title":"Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning","volume":"30","author":"Grigsby","year":"2016","journal-title":"Clin. Neuropsychol."},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1016\/j.neurobiolaging.2014.01.150","article-title":"Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers","volume":"35","author":"Hippolyte","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/gbb.12204","article-title":"Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males","volume":"14","author":"Birch","year":"2015","journal-title":"Genes. Brain Behav."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s10519-011-9520-z","article-title":"The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): Evidence for a complex inheritance","volume":"42","author":"Hunter","year":"2012","journal-title":"Behav. Genet."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s11689-017-9211-z","article-title":"Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence","volume":"9","author":"Klusek","year":"2017","journal-title":"J. Neurodev. Disord."},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1352\/1944-7558-128.3.254","article-title":"Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals with Fragile X Syndrome","volume":"128","author":"Dembo","year":"2023","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_269","doi-asserted-by":"crossref","unstructured":"Kraan, C.M., Hocking, D.R., Georgiou-Karistianis, N., Metcalfe, S.A., Archibald, A.D., Fielding, J., Trollor, J., Bradshaw, J.L., Cohen, J., and Cornish, K.M. (2014). Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation. Neurobiol. Aging, 35.","DOI":"10.1016\/j.neurobiolaging.2014.03.018"},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.neurobiolaging.2017.03.018","article-title":"Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation","volume":"55","author":"Wang","year":"2017","journal-title":"Neurobiol. Aging"},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1002\/mds.23646","article-title":"Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene","volume":"26","author":"Hashimoto","year":"2011","journal-title":"Mov. Disord."},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/ajmg.b.32529","article-title":"FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age","volume":"174","author":"Mailick","year":"2017","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.bandc.2008.11.006","article-title":"Lifespan changes in working memory in fragile X premutation males","volume":"69","author":"Cornish","year":"2009","journal-title":"Brain Cogn."},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jmg.2008.065953","article-title":"Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation","volume":"46","author":"Kutalik","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.gaitpost.2018.09.005","article-title":"Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor\/ataxia syndrome","volume":"66","author":"Robertson","year":"2018","journal-title":"Gait Posture"},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s12311-020-01199-3","article-title":"The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS","volume":"20","author":"Guan","year":"2021","journal-title":"Cerebellum"},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"297","DOI":"10.3389\/fnhum.2012.00297","article-title":"Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding","volume":"6","author":"Wang","year":"2012","journal-title":"Front. Hum. Neurosci."},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1007\/s11682-018-9928-7","article-title":"Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome","volume":"13","author":"Cvejic","year":"2019","journal-title":"Brain Imaging Behav."},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1080\/13854046.2016.1165805","article-title":"Fragile X tremor ataxia syndrome and white matter dementia","volume":"30","author":"Filley","year":"2016","journal-title":"Clin. Neuropsychol."},{"key":"ref_280","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.1212\/WNL.0000000000003979","article-title":"White matter microstructure, cognition, and molecular markers in fragile X premutation females","volume":"88","author":"Shelton","year":"2017","journal-title":"Neurology"},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"797649","DOI":"10.3389\/fneur.2022.797649","article-title":"Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation","volume":"13","author":"Wang","year":"2022","journal-title":"Front. Neurol."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/cercor\/bhs251","article-title":"Neural substrates of executive dysfunction in fragile X-associated tremor\/ataxia syndrome (FXTAS): A brain potential study","volume":"23","author":"Yang","year":"2013","journal-title":"Cereb. Cortex"},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1176\/appi.neuropsych.21110282","article-title":"A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders","volume":"35","author":"Flavell","year":"2023","journal-title":"J. Neuropsychiatry Clin. Neurosci."},{"key":"ref_284","unstructured":"Association, A. (2013). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association Publishing. [5th ed.]. The Fragile X Associated Tremor Ataxia Syndrome."},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1017\/S003329171200147X","article-title":"Global prevalence of anxiety disorders: A systematic review and meta-regression","volume":"43","author":"Baxter","year":"2013","journal-title":"Psychol. Med."},{"key":"ref_286","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/S0165-1781(98)00055-9","article-title":"Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1","volume":"80","author":"Franke","year":"1998","journal-title":"Psychiatry Res."},{"key":"ref_287","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ajmg.1561","article-title":"Neurobehavioral phenotype in carriers of the fragile X premutation","volume":"103","author":"Johnston","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_288","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.b.30241","article-title":"Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation","volume":"139","author":"Hessl","year":"2005","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_289","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1111\/j.1399-0004.2009.01317.x","article-title":"Co-occurring diagnoses among FMR1 premutation allele carriers","volume":"77","author":"Hunter","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_290","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1080\/13854046.2016.1189536","article-title":"Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation","volume":"30","author":"Schneider","year":"2016","journal-title":"Clin. Neuropsychol."},{"key":"ref_291","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1002\/ajmg.b.32196","article-title":"High rates of comorbid depressive and anxiety disorders among women with premutation of the FMR1 gene","volume":"162","author":"Kenna","year":"2013","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_292","doi-asserted-by":"crossref","first-page":"e1050","DOI":"10.1002\/mgg3.1050","article-title":"Developmental aspects of FXAND in a man with the FMR1 premutation","volume":"8","author":"Santos","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_293","first-page":"1000119","article-title":"Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers","volume":"3","author":"Polussa","year":"2014","journal-title":"Brain Disord. Ther."},{"key":"ref_294","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1007\/s10865-019-00046-z","article-title":"Cognitive behavioral therapy for primary care depression and anxiety: A secondary meta-analytic review using robust variance estimation in meta-regression","volume":"42","author":"Zhang","year":"2019","journal-title":"J. Behav. Med."},{"key":"ref_295","doi-asserted-by":"crossref","first-page":"S172","DOI":"10.1542\/peds.2016-1159D","article-title":"Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families","volume":"139","author":"Wheeler","year":"2017","journal-title":"Pediatrics"},{"key":"ref_296","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s10519-008-9214-3","article-title":"Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers","volume":"38","author":"Hunter","year":"2008","journal-title":"Behav. Genet."},{"key":"ref_297","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/ajmg.b.30786","article-title":"Mood and anxiety disorders in females with the FMR1 premutation","volume":"150","author":"Roberts","year":"2009","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_298","first-page":"65","article-title":"Ages of Onset of Mood and Anxiety Disorders in Fragile X Premutation Carriers","volume":"9","author":"Seritan","year":"2013","journal-title":"Curr. Psychiatry Rev."},{"key":"ref_299","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1097\/00004583-199402000-00015","article-title":"Behavioral and psychiatric disorders in adult male carriers of fragile X","volume":"33","author":"Dorn","year":"1994","journal-title":"J. Am. Acad. Child. Adolesc. Psychiatry"},{"key":"ref_300","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1080\/13854046.2021.1980111","article-title":"Neuropsychological and ASD phenotypes in rare genetic syndromes: A critical review of the literature","volume":"36","author":"Bush","year":"2022","journal-title":"Clin. Neuropsychol."},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1111\/jir.12121","article-title":"Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome","volume":"58","author":"Klusek","year":"2014","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_302","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s11689-016-9179-0","article-title":"A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome","volume":"8","author":"Lee","year":"2016","journal-title":"J. Neurodev. Disord."},{"key":"ref_303","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1044\/2018_JSLHR-L-18-0008","article-title":"A Multimethod Analysis of Pragmatic Skills in Children and Adolescents with Fragile X Syndrome, Autism Spectrum Disorder, and Down Syndrome","volume":"61","author":"Martin","year":"2018","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref_304","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1111\/j.1469-7610.1994.tb02300.x","article-title":"A case-control family history study of autism","volume":"35","author":"Bolton","year":"1994","journal-title":"J. Child. Psychol. Psychiatry"},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1176\/ajp.154.2.185","article-title":"Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families","volume":"154","author":"Piven","year":"1997","journal-title":"Am. J. Psychiatry"},{"key":"ref_306","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/j.1365-2788.2005.00678.x","article-title":"Theory of mind deficits in children with fragile X syndrome","volume":"49","author":"Cornish","year":"2005","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1192\/bjp.2020.231","article-title":"Autistic traits and mental health in women with the fragile-X premutation: Maternal status versus genetic risk","volume":"218","author":"White","year":"2021","journal-title":"Br. J. Psychiatry"},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2011.06.013","article-title":"FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism","volume":"146","author":"Darnell","year":"2011","journal-title":"Cell"},{"key":"ref_309","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s10803-018-3714-7","article-title":"Vagal Tone as a Putative Mechanism for Pragmatic Competence: An Investigation of Carriers of the FMR1 Premutation","volume":"49","author":"Klusek","year":"2019","journal-title":"J. Autism Dev. Disord."},{"key":"ref_310","doi-asserted-by":"crossref","first-page":"112746","DOI":"10.1016\/j.physbeh.2019.112746","article-title":"Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation","volume":"214","author":"Winston","year":"2020","journal-title":"Physiol. Behav."},{"key":"ref_311","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.biopsych.2011.05.033","article-title":"Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation","volume":"70","author":"Hessl","year":"2011","journal-title":"Biol. Psychiatry"},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1044\/2015_JSLHR-L-15-0102","article-title":"Pragmatic Language Features of Mothers with the FMR1 Premutation Are Associated with the Language Outcomes of Adolescents and Young Adults with Fragile X Syndrome","volume":"59","author":"Klusek","year":"2016","journal-title":"J. Speech Lang. Hear. Res."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/icd.622","article-title":"Shy and soft-spoken: Shyness, pragmatic language, and socio-emotional adjustment in early childhood","volume":"18","author":"Coplan","year":"2009","journal-title":"Infant. Child. Dev."},{"key":"ref_314","doi-asserted-by":"crossref","first-page":"3479","DOI":"10.1007\/s10803-017-3265-3","article-title":"Structural and Pragmatic Language in Children with ASD: Longitudinal Impact on Anxiety and Externalizing Behaviors","volume":"47","author":"Rodas","year":"2017","journal-title":"J. Autism Dev. Disord."},{"key":"ref_315","unstructured":"Ostchega, Y., Fryar, C.D., Nwankwo, T., and Nguyen, D.T. (2020). Hypertension Prevalence Among Adults Aged 18 and Over: United States, 2017\u20132018. NCHS Data Brief, 1\u20138."},{"key":"ref_316","doi-asserted-by":"crossref","first-page":"586910","DOI":"10.3389\/fgene.2020.586910","article-title":"Cardiovascular Problems in the Fragile X Premutation","volume":"11","author":"Tassanakijpanich","year":"2020","journal-title":"Front. Genet."},{"key":"ref_317","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.numecd.2021.11.018","article-title":"Female fragile X premutation carriers are at increased risk for metabolic syndrome from early adulthood","volume":"32","author":"Gruber","year":"2022","journal-title":"Nutr. Metab. Cardiovasc. Dis."},{"key":"ref_318","doi-asserted-by":"crossref","first-page":"120","DOI":"10.4088\/PCC.v10n0206","article-title":"A systematic review of chronic fatigue syndrome: Don\u2019t assume it\u2019s depression","volume":"10","author":"Griffith","year":"2008","journal-title":"Prim. Care Companion J. Clin. Psychiatry"},{"key":"ref_319","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1002\/ajmg.b.31237","article-title":"Sleep apnea in fragile X premutation carriers with and without FXTAS","volume":"156","author":"Hamlin","year":"2011","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_320","first-page":"101","article-title":"Fentanyl overdose in a female with the FMR1 premutation and FXTAS","volume":"1","author":"Adams","year":"2018","journal-title":"J. Mol. Genet."},{"key":"ref_321","doi-asserted-by":"crossref","first-page":"2233","DOI":"10.1093\/rheumatology\/ker273","article-title":"Fibromyalgia in fragile X mental retardation 1 gene premutation carriers","volume":"50","author":"Leehey","year":"2011","journal-title":"Rheumatology"},{"key":"ref_322","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/mdc3.12449","article-title":"The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome","volume":"4","author":"Hall","year":"2017","journal-title":"Mov. Disord. Clin. Pr."},{"key":"ref_323","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.semarthrit.2007.09.003","article-title":"Central sensitivity syndromes: A new paradigm and group nosology for fibromyalgia and overlapping conditions, and the related issue of disease versus illness","volume":"37","author":"Yunus","year":"2008","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_324","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1007\/s10067-012-2052-y","article-title":"Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia","volume":"31","author":"Martorell","year":"2012","journal-title":"Clin. Rheumatol."},{"key":"ref_325","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.gene.2012.10.016","article-title":"Screening for the presence of FMR1 premutation alleles in women with fibromyalgia","volume":"512","author":"Madrigal","year":"2013","journal-title":"Gene"},{"key":"ref_326","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1399-0004.2010.01448.x","article-title":"Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome","volume":"78","author":"Chonchaiya","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_327","doi-asserted-by":"crossref","first-page":"217","DOI":"10.2147\/NSS.S167658","article-title":"The prevalence and awareness of sleep apnea in patients suffering chronic pain: An assessment using the STOP-Bang sleep apnea questionnaire","volume":"10","author":"Tentindo","year":"2018","journal-title":"Nat. Sci. Sleep."},{"key":"ref_328","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1037\/a0026528","article-title":"Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome","volume":"31","author":"Seltzer","year":"2012","journal-title":"Health Psychol."},{"key":"ref_329","doi-asserted-by":"crossref","unstructured":"Napoli, E., Flores, A., Mansuri, Y., Hagerman, R.J., and Giulivi, C. (2021). Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome. Neurobiol. Dis., 157.","DOI":"10.1016\/j.nbd.2021.105427"},{"key":"ref_330","doi-asserted-by":"crossref","first-page":"101","DOI":"10.5582\/irdr.2014.01029","article-title":"Current research, diagnosis, and treatment of fragile X-associated tremor\/ataxia syndrome","volume":"3","author":"Muzar","year":"2014","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_331","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13024-022-00524-0","article-title":"Solving neurodegeneration: Common mechanisms and strategies for new treatments","volume":"17","author":"Wareham","year":"2022","journal-title":"Mol. Neurodegener."},{"key":"ref_332","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.3233\/JAD-180942","article-title":"Cognitive Resilience to Alzheimer\u2019s Disease Pathology in the Human Brain","volume":"68","author":"Crane","year":"2019","journal-title":"J. Alzheimers Dis."},{"key":"ref_333","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1002\/mds.26272","article-title":"Educational attainment and motor burden in Parkinson\u2019s disease","volume":"30","author":"Kotagal","year":"2015","journal-title":"Mov. Disord."},{"key":"ref_334","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1352\/1944-7558-124.5.411","article-title":"Positive Emotional Support in Premutation Carrier Mothers of Adolescents and Adults With Fragile X Syndrome: Gene by Environment Interactions","volume":"124","author":"Hartley","year":"2019","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_335","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1002\/gps.2231","article-title":"Functional status of men with the fragile X premutation, with and without the tremor\/ataxia syndrome (FXTAS)","volume":"24","author":"Brega","year":"2009","journal-title":"Int. J. Geriatr. Psychiatry"},{"key":"ref_336","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1007\/s12311-016-0805-x","article-title":"Aging in Fragile X Premutation Carriers","volume":"15","author":"Lozano","year":"2016","journal-title":"Cerebellum"},{"key":"ref_337","doi-asserted-by":"crossref","first-page":"101262","DOI":"10.1016\/j.ssmph.2022.101262","article-title":"The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women","volume":"19","author":"Hong","year":"2022","journal-title":"SSM Popul. Health"},{"key":"ref_338","doi-asserted-by":"crossref","unstructured":"Kraan, C., Bui, M., Archibald, A., Davison, S., Cvejic, R.C., Metcalfe, S., Amor, D.J., Trollor, J., Cohen, J., and Cornish, K. Social and physical predictors of mental health impact in adult women who have an FMR1 premutation, Genet. Med., in press.","DOI":"10.1016\/j.gimo.2023.100829"},{"key":"ref_339","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1056\/NEJMcp0808697","article-title":"Primary ovarian insufficiency","volume":"360","author":"Nelson","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"ref_340","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1097\/GME.0000000000000658","article-title":"Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)","volume":"23","author":"Hipp","year":"2016","journal-title":"Menopause"},{"key":"ref_341","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1097\/GME.0000000000000832","article-title":"Polycystic ovarian syndrome and the risk of subsequent primary ovarian insufficiency: A nationwide population-based study","volume":"24","author":"Pan","year":"2017","journal-title":"Menopause"},{"key":"ref_342","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.maturitas.2009.08.003","article-title":"Premature menopause or early menopause: Long-term health consequences","volume":"65","author":"Shuster","year":"2010","journal-title":"Maturitas"},{"key":"ref_343","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1055\/s-0033-1356480","article-title":"Biomarkers of ovarian reserve\u2014Do they predict somatic aging?","volume":"31","author":"Cedars","year":"2013","journal-title":"Semin. Reprod. Med."},{"key":"ref_344","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/ajmg.a.10862","article-title":"Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure","volume":"117","author":"Hundscheid","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_345","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1093\/humrep\/dem148","article-title":"Examination of reproductive aging milestones among women who carry the FMR1 premutation","volume":"22","author":"Allen","year":"2007","journal-title":"Hum. Reprod."},{"key":"ref_346","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1177\/2047487314566758","article-title":"Cardiovascular disease risk in women with premature ovarian insufficiency: A systematic review and meta-analysis","volume":"23","author":"Heida","year":"2016","journal-title":"Eur. J. Prev. Cardiol."},{"key":"ref_347","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1089\/whr.2021.0059","article-title":"Identity and Reproductive Aspects in Females with Fragile X Syndrome","volume":"2","author":"Reiss","year":"2021","journal-title":"Women\u2019s Health Rep."},{"key":"ref_348","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/s41436-019-0733-5","article-title":"Clustering of comorbid conditions among women who carry an FMR1 premutation","volume":"22","author":"Allen","year":"2020","journal-title":"Genet. Med."},{"key":"ref_349","doi-asserted-by":"crossref","first-page":"227","DOI":"10.2217\/fnl.14.11","article-title":"Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers","volume":"9","author":"Besterman","year":"2014","journal-title":"Future Neurol."},{"key":"ref_350","unstructured":"Hagerman, R.J., and Hagerman, P.J. (2020). Medical, Psychopharmacological, and Targeted Treatment for FXS, Mac Keith Press."},{"key":"ref_351","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1592\/phco.25.3.396.61600","article-title":"Duloxetine: A dual serotonin-norepinephrine reuptake inhibitor for treatment of major depressive disorder","volume":"25","author":"Kirwin","year":"2005","journal-title":"Pharmacotherapy"},{"key":"ref_352","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1586\/14737175.2016.1135735","article-title":"Alternative pharmacological strategies for adult ADHD treatment: A systematic review","volume":"16","author":"Buoli","year":"2016","journal-title":"Expert. Rev. Neurother."},{"key":"ref_353","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1517\/14656566.9.4.517","article-title":"Duloxetine for premenstrual dysphoric disorder: A pilot study","volume":"9","author":"Mazza","year":"2008","journal-title":"Expert. Opin. Pharmacother."},{"key":"ref_354","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1017\/S1461145709000066","article-title":"Duloxetine treatment for women with premenstrual dysphoric disorder: A single-blind trial","volume":"12","author":"Ramos","year":"2009","journal-title":"Int. J. Neuropsychopharmacol."},{"key":"ref_355","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1097\/AOG.0b013e31816fd73b","article-title":"Selective serotonin reuptake inhibitors for premenstrual syndrome and premenstrual dysphoric disorder: A meta-analysis","volume":"111","author":"Shah","year":"2008","journal-title":"Obs. Gynecol."},{"key":"ref_356","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s10608-012-9476-1","article-title":"The Efficacy of Cognitive Behavioral Therapy: A Review of Meta-analyses","volume":"36","author":"Hofmann","year":"2012","journal-title":"Cogn. Ther. Res."},{"key":"ref_357","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.psc.2017.08.009","article-title":"Acceptance and Commitment Therapy as a Treatment for Anxiety and Depression: A Review","volume":"40","author":"Twohig","year":"2017","journal-title":"Psychiatr. Clin. N. Am."},{"key":"ref_358","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1176\/foc.4.2.204","article-title":"Combined Psychotherapy and Pharmacotherapy for Mood and Anxiety Disorders in Adults: Review and Analysis","volume":"4","author":"Otto","year":"2006","journal-title":"FOCUS"},{"key":"ref_359","first-page":"745","article-title":"Anxiety and depression","volume":"72","author":"Maina","year":"2016","journal-title":"Med. Clin. N. Am."},{"key":"ref_360","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1176\/appi.focus.20200045","article-title":"Cognitive-Behavioral Treatments for Anxiety and Stress-Related Disorders","volume":"19","author":"Curtiss","year":"2021","journal-title":"Focus"},{"key":"ref_361","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.cpr.2011.03.009","article-title":"A meta-analysis of treatments for perinatal depression","volume":"31","author":"Sockol","year":"2011","journal-title":"Clin. Psychol. Rev."},{"key":"ref_362","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1159\/000162296","article-title":"Psychological intervention for premenstrual syndrome: A meta-analysis of randomized controlled trials","volume":"78","author":"Busse","year":"2009","journal-title":"Psychother. Psychosom."},{"key":"ref_363","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/s41398-018-0183-x","article-title":"Diagnosis of major depressive disorder based on changes in multiple plasma neurotransmitters: A targeted metabolomics study","volume":"8","author":"Pan","year":"2018","journal-title":"Transl. Psychiatry"},{"key":"ref_364","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1521\/pdps.2015.43.3.423","article-title":"Contemporary Cognitive Behavior Therapy: A Review of Theory, History, and Evidence","volume":"43","author":"Thoma","year":"2015","journal-title":"Psychodyn. Psychiatry"},{"key":"ref_365","doi-asserted-by":"crossref","first-page":"77","DOI":"10.4103\/jfcm.JFCM_494_20","article-title":"Perception and barriers to the use of cognitive-behavioral therapy in the treatment of depression in primary healthcare centers and family medicine clinics in Saudi Arabia","volume":"28","author":"AlHadi","year":"2021","journal-title":"J. Fam. Community Med."},{"key":"ref_366","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1080\/j.1440-1614.2006.01801.x","article-title":"Pathways to the first contact with specialist mental health care","volume":"40","author":"Steel","year":"2006","journal-title":"Aust. N. Z. J. Psychiatry"},{"key":"ref_367","doi-asserted-by":"crossref","first-page":"4945","DOI":"10.1093\/hmg\/ddu210","article-title":"Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans","volume":"23","author":"Juang","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_368","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1080\/08039480802315640","article-title":"Physical activity in the prevention and treatment of anxiety and depression","volume":"62","author":"Martinsen","year":"2008","journal-title":"Nord. J. Psychiatry"},{"key":"ref_369","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/ddab083","article-title":"Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model","volume":"30","author":"Shelly","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_370","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1369\/0022155412441002","article-title":"Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency","volume":"60","author":"Hoffman","year":"2012","journal-title":"J. Histochem. Cytochem."},{"key":"ref_371","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/sj.ejhg.5201510","article-title":"Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers","volume":"14","author":"Ennis","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_372","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1097\/gme.0b013e3181647762","article-title":"Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome","volume":"15","author":"Tejada","year":"2008","journal-title":"Menopause"},{"key":"ref_373","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1097\/GIM.0b013e31821705e5","article-title":"Predictors and risk model development for menopausal age in fragile X premutation carriers","volume":"13","author":"Spath","year":"2011","journal-title":"Genet. Med."},{"key":"ref_374","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1038\/s41436-021-01177-y","article-title":"Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size","volume":"23","author":"Allen","year":"2021","journal-title":"Genet. Med."},{"key":"ref_375","first-page":"1757","article-title":"Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction","volume":"23","author":"Brunberg","year":"2002","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_376","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1212\/01.wnl.0000239837.57475.3a","article-title":"Molecular and imaging correlates of the fragile X-associated tremor\/ataxia syndrome","volume":"67","author":"Cohen","year":"2006","journal-title":"Neurology"},{"key":"ref_377","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1093\/brain\/awq368","article-title":"A voxel-based morphometry study of grey matter loss in fragile X-associated tremor\/ataxia syndrome","volume":"134","author":"Hashimoto","year":"2011","journal-title":"Brain"},{"key":"ref_378","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1016\/j.neurobiolaging.2012.12.001","article-title":"Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor\/ataxia syndrome","volume":"34","author":"Battistella","year":"2013","journal-title":"Neurobiol. Aging"},{"key":"ref_379","doi-asserted-by":"crossref","first-page":"379","DOI":"10.3389\/fnins.2018.00379","article-title":"Middle Cerebellar Peduncle Width\u2014A Novel MRI Biomarker for FXTAS?","volume":"12","author":"Shelton","year":"2018","journal-title":"Front. Neurosci."},{"key":"ref_380","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jnnp-2016-313937","article-title":"Selective subcortical contributions to gait impairments in males with the FMR1 premutation","volume":"88","author":"Birch","year":"2017","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_381","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.neurobiolaging.2016.10.017","article-title":"Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation","volume":"50","author":"Hocking","year":"2017","journal-title":"Neurobiol. Aging"},{"key":"ref_382","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1002\/mds.25473","article-title":"A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers","volume":"28","author":"Wang","year":"2013","journal-title":"Mov. Disord."},{"key":"ref_383","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/s41583-018-0002-7","article-title":"The basal ganglia and the cerebellum: Nodes in an integrated network","volume":"19","author":"Bostan","year":"2018","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_384","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.cortex.2008.04.004","article-title":"Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems","volume":"44","author":"Schmahmann","year":"2008","journal-title":"Cortex"},{"key":"ref_385","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1212\/01.wnl.0000269781.10417.7b","article-title":"Volumetric brain changes in females with fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"69","author":"Adams","year":"2007","journal-title":"Neurology"},{"key":"ref_386","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s00415-014-7557-7","article-title":"Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice","volume":"262","author":"Renaud","year":"2015","journal-title":"J. Neurol."},{"key":"ref_387","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1001\/archneurol.2011.2023","article-title":"Age-dependent structural connectivity effects in fragile x premutation","volume":"69","author":"Wang","year":"2012","journal-title":"Arch. Neurol."},{"key":"ref_388","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1002\/ajmg.b.31046","article-title":"Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers","volume":"153","author":"Adams","year":"2010","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_389","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1172\/JCI119538","article-title":"Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes","volume":"100","author":"Laakso","year":"1997","journal-title":"J. Clin. Investig."},{"key":"ref_390","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1001\/jamaneurol.2013.2934","article-title":"Fragile X-associated tremor\/ataxia syndrome: Influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles","volume":"70","author":"Wang","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_391","doi-asserted-by":"crossref","first-page":"832","DOI":"10.3389\/fneur.2019.00832","article-title":"Total and Regional White Matter Lesions Are Correlated with Motor and Cognitive Impairments in Carriers of the FMR1 Premutation","volume":"10","author":"Hocking","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_392","doi-asserted-by":"crossref","first-page":"531","DOI":"10.3389\/fgene.2018.00531","article-title":"The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers","volume":"9","author":"Loesch","year":"2018","journal-title":"Front. Genet."},{"key":"ref_393","doi-asserted-by":"crossref","first-page":"21382","DOI":"10.1038\/s41598-022-25615-2","article-title":"Artificial neural network applied to fragile X-associated tremor\/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes","volume":"12","author":"Giulivi","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_394","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.neurobiolaging.2019.09.009","article-title":"Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles","volume":"86","author":"Wang","year":"2020","journal-title":"Neurobiol. Aging"},{"key":"ref_395","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/mds.28838","article-title":"Diffusion Magnetic Resonance Imaging Detects Progression in Parkinson\u2019s Disease: A Placebo-Controlled Trial of Rasagiline","volume":"37","author":"Arpin","year":"2022","journal-title":"Mov. Disord."},{"key":"ref_396","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1212\/WNL.0000000000002985","article-title":"Functional MRI of disease progression in Parkinson disease and atypical parkinsonian syndromes","volume":"87","author":"Burciu","year":"2016","journal-title":"Neurology"},{"key":"ref_397","doi-asserted-by":"crossref","first-page":"21719","DOI":"10.1038\/srep21719","article-title":"Memantine Improves Attentional Processes in Fragile X-Associated Tremor\/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial","volume":"6","author":"Yang","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_398","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.neuropsychologia.2014.08.001","article-title":"ERP abnormalities elicited by word repetition in fragile X-associated tremor\/ataxia syndrome (FXTAS) and amnestic MCI","volume":"63","author":"Yang","year":"2014","journal-title":"Neuropsychologia"},{"key":"ref_399","doi-asserted-by":"crossref","first-page":"2760","DOI":"10.1038\/npp.2014.122","article-title":"Memantine effects on verbal memory in fragile X-associated tremor\/ataxia syndrome (FXTAS): A double-blind brain potential study","volume":"39","author":"Yang","year":"2014","journal-title":"Neuropsychopharmacology"},{"key":"ref_400","doi-asserted-by":"crossref","first-page":"264","DOI":"10.4088\/JCP.13m08546","article-title":"Memantine for fragile X-associated tremor\/ataxia syndrome: A randomized, double-blind, placebo-controlled trial","volume":"75","author":"Seritan","year":"2014","journal-title":"J. Clin. Psychiatry"},{"key":"ref_401","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1162\/netn_a_00234","article-title":"Latent functional connectivity underlying multiple brain states","volume":"6","author":"McCormick","year":"2022","journal-title":"Netw. Neurosci."},{"key":"ref_402","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.nicl.2017.12.016","article-title":"Age-related functional brain changes in FMR1 premutation carriers","volume":"17","author":"Brown","year":"2018","journal-title":"Neuroimage Clin."},{"key":"ref_403","doi-asserted-by":"crossref","first-page":"102332","DOI":"10.1016\/j.nicl.2020.102332","article-title":"Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers","volume":"27","author":"McKinney","year":"2020","journal-title":"Neuroimage Clin."},{"key":"ref_404","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3389\/fnint.2019.00056","article-title":"Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers","volume":"13","author":"McKinney","year":"2019","journal-title":"Front. Integr. Neurosci."},{"key":"ref_405","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1007\/s00221-019-05566-3","article-title":"Functional motor control deficits in older FMR1 premutation carriers","volume":"237","author":"Park","year":"2019","journal-title":"Exp. Brain Res."},{"key":"ref_406","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1093\/brain\/awl338","article-title":"Amygdala dysfunction in men with the fragile X premutation","volume":"130","author":"Hessl","year":"2007","journal-title":"Brain"},{"key":"ref_407","doi-asserted-by":"crossref","first-page":"e43","DOI":"10.1136\/jmg.2003.012518","article-title":"Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor\/ataxia syndrome","volume":"41","author":"Tassone","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_408","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1007\/s12311-016-0776-y","article-title":"A Majority of FXTAS Cases Present with Intranuclear Inclusions within Purkinje Cells","volume":"15","author":"Ariza","year":"2016","journal-title":"Cerebellum"},{"key":"ref_409","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s40478-014-0162-2","article-title":"FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor\/ataxia syndrome","volume":"2","author":"Buijsen","year":"2014","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_410","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s12311-016-0798-5","article-title":"Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS","volume":"15","author":"Rogers","year":"2016","journal-title":"Cerebellum"},{"key":"ref_411","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/mds.26902","article-title":"Iron accumulation and dysregulation in the putamen in fragile X-associated tremor\/ataxia syndrome","volume":"32","author":"Ariza","year":"2017","journal-title":"Mov. Disord."},{"key":"ref_412","doi-asserted-by":"crossref","unstructured":"Wang, J.Y., Sonico, G.J., Salcedo-Arellano, M.J., Hagerman, R.J., and Mart\u00ednez-Cerde\u00f1o, V. (2023). A postmortem MRI study of cerebrovascular disease and iron content at end-stage of fragile X-associated tremor\/ataxia syndrome. Res. Sq.","DOI":"10.21203\/rs.3.rs-2440612\/v1"},{"key":"ref_413","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.parkreldis.2020.11.026","article-title":"FXTAS presents with upregulation of the cytokines IL12 and TNF\u03b1","volume":"82","author":"Dufour","year":"2021","journal-title":"Park. Relat. Disord."},{"key":"ref_414","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.parkreldis.2014.01.006","article-title":"Parkinsonism in fragile X-associated tremor\/ataxia syndrome (FXTAS): Revisited","volume":"20","author":"Niu","year":"2014","journal-title":"Park. Relat. Disord."},{"key":"ref_415","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1002\/mds.27060","article-title":"Two FMR1 premutation cases without nuclear inclusions","volume":"32","author":"Lechpammer","year":"2017","journal-title":"Mov. Disord."},{"key":"ref_416","doi-asserted-by":"crossref","first-page":"317","DOI":"10.3389\/fgene.2018.00317","article-title":"Svenningsson, Pathological Study of a FMR1 Premutation Carrier with Progressive Supranuclear Palsy","volume":"9","author":"Paucar","year":"2018","journal-title":"Front. Genet."},{"key":"ref_417","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1186\/s40478-019-0818-z","article-title":"Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology","volume":"7","author":"Sacino","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_418","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.conb.2021.11.006","article-title":"Recent research in fragile X-associated tremor\/ataxia syndrome","volume":"72","author":"Hagerman","year":"2022","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_419","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1097\/WCO.0000000000000954","article-title":"Fragile X-associated tremor\/ataxia syndrome: Pathophysiology and management","volume":"34","author":"Hagerman","year":"2021","journal-title":"Curr. Opin. Neurol."},{"key":"ref_420","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1002\/mds.21001","article-title":"Symptomatic treatment in the fragile X-associated tremor\/ataxia syndrome","volume":"21","author":"Hall","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_421","first-page":"tre-02-56-352-1","article-title":"Fragile x-associated tremor ataxia syndrome: The expanding clinical picture, pathophysiology, epidemiology, and update on treatment","volume":"2","author":"Hall","year":"2012","journal-title":"Tremor Other Hyperkinetic Mov."},{"key":"ref_422","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/cge.12646","article-title":"Neurological and endocrine phenotypes of fragile X carrier women","volume":"89","author":"Hall","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_423","doi-asserted-by":"crossref","first-page":"251","DOI":"10.2147\/CIA.S1794","article-title":"Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems","volume":"3","author":"Hagerman","year":"2008","journal-title":"Clin. Interv. Aging"},{"key":"ref_424","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1007\/s13311-017-0555-6","article-title":"Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"14","author":"Wang","year":"2017","journal-title":"Neurotherapeutics"},{"key":"ref_425","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1007\/s13311-017-0569-0","article-title":"Can a Neurosteroid Ameliorate Fragile X-Associated Tremor\/Ataxia Syndrome?","volume":"14","author":"Budimirovic","year":"2017","journal-title":"Neurotherapeutics"},{"key":"ref_426","doi-asserted-by":"crossref","unstructured":"Hall, D.A., Robertson, E.E., Leehey, M., McAsey, A., Ouyang, B., Berry-Kravis, E., and O\u2019Keefe, J.A. (2020). Open-label pilot clinical trial of citicoline for fragile X-associated tremor\/ataxia syndrome (FXTAS). PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0225191"},{"key":"ref_427","unstructured":"Santos, E., Clark, K., Maridith, B., Biag, H., Tang, S.J., Kim, K., Ponzini, M., Schneider, A., Montanaro, F., and Gipe, J.T.E. (Cells, 2023). Open label trial of Sulforaphane in FMR1 Premutation Carriers with FXTAS, Cells, under review."},{"key":"ref_428","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/B978-0-444-63233-3.00025-7","article-title":"Fragile X syndrome and fragile X-associated tremor ataxia syndrome","volume":"147","author":"Hall","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_429","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1007\/s00415-018-8823-x","article-title":"Deep brain stimulation in uncommon tremor disorders: Indications, targets, and programming","volume":"265","author":"Artusi","year":"2018","journal-title":"J. Neurol."},{"key":"ref_430","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1212\/WNL.0000000000005055","article-title":"Comprehensive Systematic Review Summary: Treatment of Cerebellar Motor Dysfunction and Ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology","volume":"90","author":"Zesiewicz","year":"2018","journal-title":"Neurology"},{"key":"ref_431","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1056\/NEJMoa013128","article-title":"Memantine in moderate-to-severe Alzheimer\u2019s disease","volume":"348","author":"Reisberg","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_432","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S0140-6736(20)30367-6","article-title":"Dementia prevention, intervention, and care: 2020 report of the Lancet Commission","volume":"396","author":"Livingston","year":"2020","journal-title":"Lancet"},{"key":"ref_433","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1093\/aje\/kwx345","article-title":"Does Strength-Promoting Exercise Confer Unique Health Benefits? A Pooled Analysis of Data on 11 Population Cohorts with All-Cause, Cancer, and Cardiovascular Mortality Endpoints","volume":"187","author":"Stamatakis","year":"2018","journal-title":"Am. J. Epidemiol."},{"key":"ref_434","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1136\/bjsports-2016-096587","article-title":"Exercise interventions for cognitive function in adults older than 50: A systematic review with meta-analysis","volume":"52","author":"Northey","year":"2018","journal-title":"Br. J. Sports Med."},{"key":"ref_435","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1113\/expphysiol.2009.048512","article-title":"Evidence for a release of brain-derived neurotrophic factor from the brain during exercise","volume":"94","author":"Rasmussen","year":"2009","journal-title":"Exp. Physiol."},{"key":"ref_436","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s11556-019-0217-2","article-title":"Functional and\/or structural brain changes in response to resistance exercises and resistance training lead to cognitive improvements\u2014A systematic review","volume":"16","author":"Herold","year":"2019","journal-title":"Eur. Rev. Aging Phys. Act."},{"key":"ref_437","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1038\/s41591-023-02235-5","article-title":"Optimal dietary patterns for prevention of chronic disease","volume":"29","author":"Wang","year":"2023","journal-title":"Nat. Med."},{"key":"ref_438","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1097\/NT.0000000000000512","article-title":"Dietary Guidelines for Americans, 2020\u20132025: Understanding the Scientific Process, Guidelines, and Key Recommendations","volume":"56","author":"Snetselaar","year":"2021","journal-title":"Nutr. Today"},{"key":"ref_439","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/nature08221","article-title":"Rapamycin fed late in life extends lifespan in genetically heterogeneous mice","volume":"460","author":"Harrison","year":"2009","journal-title":"Nature"},{"key":"ref_440","doi-asserted-by":"crossref","first-page":"8048","DOI":"10.18632\/aging.102355","article-title":"Rapamycin for longevity: Opinion article","volume":"11","author":"Blagosklonny","year":"2019","journal-title":"Aging"},{"key":"ref_441","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/s43587-023-00416-y","article-title":"Targeting the biology of aging with mTOR inhibitors","volume":"3","author":"Mannick","year":"2023","journal-title":"Nat. Aging"},{"key":"ref_442","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1056\/NEJMoa035071","article-title":"Sirolimus-eluting stents versus standard stents in patients with stenosis in a native coronary artery","volume":"349","author":"Moses","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_443","first-page":"Cd011272","article-title":"Rapamycin and rapalogs for tuberous sclerosis complex","volume":"7","author":"Sasongko","year":"2016","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_444","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/acel.12405","article-title":"Alternative rapamycin treatment regimens mitigate the impact of rapamycin on glucose homeostasis and the immune system","volume":"15","author":"Neuman","year":"2016","journal-title":"Aging Cell"},{"key":"ref_445","doi-asserted-by":"crossref","unstructured":"Lin, Y., Tang, C., He, H., and Duan, R. (2013). Activation of mTOR ameliorates fragile X premutation rCGG repeat-mediated neurodegeneration. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0062572"},{"key":"ref_446","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1172\/JCI64099","article-title":"Rapalogs and mTOR inhibitors as anti-aging therapeutics","volume":"123","author":"Lamming","year":"2013","journal-title":"J. Clin. Investig."},{"key":"ref_447","doi-asserted-by":"crossref","first-page":"eaar4289","DOI":"10.1126\/scitranslmed.aar4289","article-title":"Rapamycin and Alzheimer\u2019s disease: Time for a clinical trial?","volume":"11","author":"Kaeberlein","year":"2019","journal-title":"Sci. Transl. Med."},{"key":"ref_448","doi-asserted-by":"crossref","first-page":"655568","DOI":"10.3389\/fncel.2021.655568","article-title":"Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration","volume":"15","author":"Xu","year":"2021","journal-title":"Front. Cell Neurosci."},{"key":"ref_449","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/S0896-6273(03)00533-6","article-title":"RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila","volume":"39","author":"Jin","year":"2003","journal-title":"Neuron"},{"key":"ref_450","doi-asserted-by":"crossref","unstructured":"Alvarado, C.X., Makarious, M.B., Vitale, D., Koretsky, M.J., Bandres-Ciga, S., Iwaki, H., Levine, K., Singleton, A., Faghri, F., and Nalls, M.A. (2023). omicSynth: An Open Multi-omic Community Resource for Identifying Druggable Targets across Neurodegenerative Diseases. medRxiv, medRxiv:06.23288266.","DOI":"10.1101\/2023.04.06.23288266"},{"key":"ref_451","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jpeds.2017.10.008","article-title":"Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome","volume":"193","author":"Gabis","year":"2018","journal-title":"J. Pediatr."},{"key":"ref_452","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1542\/peds.2008-2992","article-title":"No change in the age of diagnosis for fragile x syndrome: Findings from a national parent survey","volume":"124","author":"Bailey","year":"2009","journal-title":"Pediatrics"},{"key":"ref_453","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10897-007-9099-y","article-title":"Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders","volume":"16","author":"Abrams","year":"2007","journal-title":"J. Genet. Couns."},{"key":"ref_454","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1007\/s10897-016-9940-2","article-title":"Family Communication and Cascade Testing for Fragile X Syndrome","volume":"25","author":"Raspa","year":"2016","journal-title":"J. Genet. Couns."},{"key":"ref_455","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1002\/mds.21493","article-title":"Fragile X-associated tremor\/ataxia syndrome: Clinical features, genetics, and testing guidelines","volume":"22","author":"Abrams","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_456","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1352\/1944-7558-188.4.284","article-title":"Developmental and behavioral pediatricians\u2019 attitudes toward screening for fragile X","volume":"118","author":"Acharya","year":"2013","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_457","doi-asserted-by":"crossref","first-page":"317","DOI":"10.2471\/BLT.07.050112","article-title":"Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years","volume":"86","author":"Andermann","year":"2008","journal-title":"Bull. World Health Organ."},{"key":"ref_458","doi-asserted-by":"crossref","first-page":"S216","DOI":"10.1542\/peds.2016-1159H","article-title":"Fragile X Newborn Screening: Lessons Learned from a Multisite Screening Study","volume":"139","author":"Bailey","year":"2017","journal-title":"Pediatrics"},{"key":"ref_459","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.a.35752","article-title":"Maternal attitudes to newborn screening for fragile X syndrome","volume":"161","author":"Christie","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_460","doi-asserted-by":"crossref","first-page":"e2020011528","DOI":"10.1542\/peds.2020-011528","article-title":"Emergence of Developmental Delay in Infants and Toddlers with an FMR1 Mutation","volume":"147","author":"Wheeler","year":"2021","journal-title":"Pediatrics"},{"key":"ref_461","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1001\/jamaneurol.2013.4808","article-title":"Newborn screening for fragile X syndrome","volume":"71","author":"Tassone","year":"2014","journal-title":"JAMA Neurol."},{"key":"ref_462","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.jmoldx.2019.11.002","article-title":"Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System","volume":"22","author":"Lee","year":"2020","journal-title":"J. Mol. Diagn."},{"key":"ref_463","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1586\/14737159.2015.1101348","article-title":"Advanced technologies for the molecular diagnosis of fragile X syndrome","volume":"15","author":"Tassone","year":"2015","journal-title":"Expert. Rev. Mol. Diagn."},{"key":"ref_464","doi-asserted-by":"crossref","first-page":"e433","DOI":"10.1542\/peds.2015-0414","article-title":"Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening","volume":"136","author":"Bailey","year":"2015","journal-title":"Pediatrics"},{"key":"ref_465","doi-asserted-by":"crossref","unstructured":"Bailey, D.B., Gehtland, L.M., Lewis, M.A., Peay, H., Raspa, M., Shone, S.M., Taylor, J.L., Wheeler, A.C., Cotten, M., and King, N.M.P. (2019). Early Check: Translational science at the intersection of public health and newborn screening. BMC Pediatr., 19.","DOI":"10.1186\/s12887-019-1606-4"},{"key":"ref_466","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1866-1955-6-29","article-title":"Visual motion processing deficits in infants with the fragile X premutation","volume":"6","author":"Gallego","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_467","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s11689-016-9171-8","article-title":"Developmental profiles of infants with an FMR1 premutation","volume":"8","author":"Wheeler","year":"2016","journal-title":"J. Neurodev. Disord."},{"key":"ref_468","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/gim.0b013e31822ebaa6","article-title":"Caregiver opinions about fragile X population screening","volume":"14","author":"Bailey","year":"2012","journal-title":"Genet. Med."},{"key":"ref_469","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s12687-016-0262-8","article-title":"\u201cIt gives them more options\u201d: Preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare","volume":"7","author":"Archibald","year":"2016","journal-title":"J. Community Genet."},{"key":"ref_470","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1038\/gim.2017.67","article-title":"Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening","volume":"19","author":"Metcalfe","year":"2017","journal-title":"Genet. Med."},{"key":"ref_471","doi-asserted-by":"crossref","first-page":"e1711","DOI":"10.1002\/mgg3.1711","article-title":"Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center","volume":"9","author":"Xi","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_472","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1007\/s10897-012-9524-8","article-title":"Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the national society of genetic counselors","volume":"21","author":"Finucane","year":"2012","journal-title":"J. Genet. Couns."},{"key":"ref_473","doi-asserted-by":"crossref","first-page":"e003660","DOI":"10.1136\/bmjopen-2013-003660","article-title":"Offering fragile X syndrome carrier screening: A prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population","volume":"3","author":"Martyn","year":"2013","journal-title":"BMJ Open"},{"key":"ref_474","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_475","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1038\/s41436-021-01115-y","article-title":"Laboratory testing for fragile X, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Spector","year":"2021","journal-title":"Genet. Med."},{"key":"ref_476","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/ejhg.2014.185","article-title":"EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders","volume":"23","author":"Biancalana","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_477","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1002\/ajmg.a.61286","article-title":"Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles","volume":"179","author":"Hayward","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_478","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/s41431-019-0554-7","article-title":"Methylated premutation of the FMR1 gene in three sisters: Correlating CGG expansion and epigenetic inactivation","volume":"28","author":"Tabolacci","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_479","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1080\/14737159.2017.1377612","article-title":"Size and methylation mosaicism in males with Fragile X syndrome","volume":"17","author":"Jiraanont","year":"2017","journal-title":"Expert. Rev. Mol. Diagn."},{"key":"ref_480","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/gim.2017.134","article-title":"Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: Outcomes of 12,000 tests","volume":"20","author":"Archibald","year":"2018","journal-title":"Genet. Med."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/18\/2330\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:54:57Z","timestamp":1760129697000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/18\/2330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,21]]},"references-count":480,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["cells12182330"],"URL":"https:\/\/doi.org\/10.3390\/cells12182330","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,21]]}}}