{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T21:08:31Z","timestamp":1790543311859,"version":"4.1.0"},"reference-count":68,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2016,7,2]],"date-time":"2016-07-02T00:00:00Z","timestamp":1467417600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"NIH","award":["R01NS052487"],"award-info":[{"award-number":["R01NS052487"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1007\/s12311-016-0809-6","type":"journal-article","created":{"date-parts":[[2016,7,2]],"date-time":"2016-07-02T06:07:52Z","timestamp":1467439672000},"page":"623-631","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series"],"prefix":"10.1007","volume":"15","author":[{"given":"Sarah M.","family":"Debrey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen A.","family":"Leehey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Klepitskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Filley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raj C.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benzi","family":"Kluger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Spector","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Tassone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,7,2]]},"reference":[{"key":"809_CR1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","volume":"57","author":"RJ Hagerman","year":"2001","unstructured":"Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001;57:127\u201330.","journal-title":"Neurology"},{"key":"809_CR2","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1093\/brain\/awf184","volume":"125","author":"CM Greco","year":"2002","unstructured":"Greco CM, Hagerman RJ, Tassone F, et al. Neuronal intranuclear inclusions in a new cerebellar tremor\/ataxia syndrome among fragile X carriers. Brain. 2002;125:1760\u201371.","journal-title":"Brain"},{"key":"809_CR3","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jmg.2008.065953","volume":"46","author":"M Sevin","year":"2009","unstructured":"Sevin M, Kutalik Z, Bergman S, et al. Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. J Med Genet. 2009;46:818\u201324.","journal-title":"J Med Genet"},{"key":"809_CR4","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/ajmg.1320510419","volume":"51","author":"CE Schwartz","year":"1994","unstructured":"Schwartz CE, Dean J, Howard-Peebles PN, et al. Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet. 1994;51:400\u20132.","journal-title":"Am J Med Genet"},{"key":"809_CR5","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.parkreldis.2008.04.037","volume":"15","author":"DA Hall","year":"2009","unstructured":"Hall DA, Howard K, Hagerman RJ, Leehey MA. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord. 2009;15:156\u20139.","journal-title":"Parkinsonism Relat Disord"},{"key":"809_CR6","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1086\/302720","volume":"66","author":"F Tassone","year":"2000","unstructured":"Tassone F, Hagerman RJ, Taylor AK, Gane L, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile X syndrome. Am J Hum Genet. 2000;66:6\u201315.","journal-title":"Am J Hum Genet"},{"key":"809_CR7","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/gim.2013.61","volume":"15","author":"KG Monaghan","year":"2013","unstructured":"Monaghan KG, Lyon E, Spector EB, American College of Medical G, Genomics. ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for clinical genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med: Off J Am Coll Med Genet. 2013;15:575\u201386.","journal-title":"Genet Med: Off J Am Coll Med Genet"},{"key":"809_CR8","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/gm401","volume":"4","author":"F Tassone","year":"2012","unstructured":"Tassone F, Iong KP, Tong TH, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012;4:100.","journal-title":"Genome Med"},{"key":"809_CR9","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/mds.21359","volume":"22","author":"J Grigsby","year":"2007","unstructured":"Grigsby J, Brega AG, Leehey MA, et al. Impairment of executive cognitive functioning in males with fragile X-associated tremor\/ataxia syndrome. Mov Disord: Off J Mov Disord Soc. 2007;22:645\u201350.","journal-title":"Mov Disord: Off J Mov Disord Soc"},{"key":"809_CR10","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1097\/GIM.0b013e3182064362","volume":"13","author":"DZ Loesch","year":"2011","unstructured":"Loesch DZ, Godler DE, Evans A, et al. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med. 2011;13:392\u20139.","journal-title":"Genet Med"},{"key":"809_CR11","doi-asserted-by":"crossref","first-page":"2306","DOI":"10.1002\/ajmg.a.32990","volume":"149A","author":"DZ Loesch","year":"2009","unstructured":"Loesch DZ, Godler DE, Khaniani M, et al. Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A. 2009;149A:2306\u201310.","journal-title":"Am J Med Genet A"},{"key":"809_CR12","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ajmg.a.35833","volume":"161A","author":"SL Nolin","year":"2013","unstructured":"Nolin SL, Sah S, Glicksman A, et al. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013;161A:771\u20138.","journal-title":"Am J Med Genet A"},{"key":"809_CR13","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1002\/mds.23755","volume":"26","author":"DA Hall","year":"2011","unstructured":"Hall DA, Berry-Kravis E, Zhang W, et al. FMR1 gray-zone alleles: association with Parkinson\u2019s disease in women? Mov Disord. 2011;26:1900\u20136.","journal-title":"Mov Disord"},{"key":"809_CR14","first-page":"296","volume":"27","author":"DA Hall","year":"2012","unstructured":"Hall DA, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord. 2012;27:296\u2013300.","journal-title":"Mov Disord"},{"key":"809_CR15","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/cge.12026","volume":"84","author":"Y Liu","year":"2013","unstructured":"Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. Fragile X-associated tremor\/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet. 2013;84:74\u20137.","journal-title":"Clin Genet"},{"key":"809_CR16","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.parkreldis.2010.07.006","volume":"16","author":"DA Hall","year":"2010","unstructured":"Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord. 2010;16:608\u201311.","journal-title":"Parkinsonism Relat Disord"},{"key":"809_CR17","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1016\/j.neurobiolaging.2014.04.027","volume":"35","author":"DA Hall","year":"2014","unstructured":"Hall DA, Bennett DA, Filley CM, et al. Fragile X gene expansions are not associated with dementia. Neurobiol Aging. 2014;35:2637\u20138.","journal-title":"Neurobiol Aging"},{"key":"809_CR18","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/mds.870120214","volume":"12","author":"S Siesling","year":"1997","unstructured":"Siesling S, Zwinderman AH, van Vugt JP, Kieburtz K, Roos RA. A shortened version of the motor section of the unified Huntington\u2019s disease rating scale. Mov Disord: Off J Mov Disord Soc. 1997;12:229\u201334.","journal-title":"Mov Disord: Off J Mov Disord Soc"},{"key":"809_CR19","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0022-510X(96)00231-6","volume":"145","author":"P Trouillas","year":"1997","unstructured":"Trouillas P, Takayanagi T, Hallett M, et al. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci. 1997;145:205\u201311.","journal-title":"J Neurol Sci"},{"key":"809_CR20","first-page":"225","volume-title":"Parkinson\u2019s disease and movement disorders","author":"S Fahn","year":"1987","unstructured":"Fahn S, Tolosa E, Marin C. Clinical rating scale for tremor. In: Jankovic J, Tolosa E, editors. Parkinson\u2019s disease and movement disorders. Baltimore: Urban & Schwartzenberg; 1987. p. 225\u201334."},{"key":"809_CR21","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1212\/WNL.50.5.1351","volume":"50","author":"ED Louis","year":"1998","unstructured":"Louis ED, Ford B, Lee H, Andrews H. Does a screening questionnaire for essential tremor agree with the physician\u2019s examination? Neurology. 1998;50:1351\u20137.","journal-title":"Neurology"},{"key":"809_CR22","first-page":"153","volume-title":"Recent development in Parkinson\u2019s disease","author":"S Fahn","year":"1987","unstructured":"Fahn S, Elton R, Committee Mot UD. Unified Parkinson\u2019s Disease Rating Scale. In: Fahn S, Marsden C, Calne D, Goldstein M, editors. Recent development in Parkinson\u2019s disease. Florham Park: Macmillan Health Care Information; 1987. p. 153\u201364."},{"key":"809_CR23","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1001\/archneur.56.1.33","volume":"56","author":"DJ Gelb","year":"1999","unstructured":"Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson\u2019s disease. Arch Neurol. 1999;56:33\u20139.","journal-title":"Arch Neurol"},{"key":"809_CR24","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/S0022-510X(98)00304-9","volume":"163","author":"S Gilman","year":"1999","unstructured":"Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple systems atrophy. J Neurol Sci. 1999;163:94\u20138.","journal-title":"J Neurol Sci"},{"key":"809_CR25","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/j.1468-1331.1995.tb00129.x","volume":"2","author":"E Tolosa","year":"1995","unstructured":"Tolosa E, Valldeoriola F, Cruz-Sanchez F. Progressive supranuclear palsy: clinical and pathological diagnosis. Eur J Neurol. 1995;2:258\u201373.","journal-title":"Eur J Neurol"},{"key":"809_CR26","first-page":"877","volume-title":"Neurodegeneration diseases","author":"AE Lang","year":"1994","unstructured":"Lang AE, Riley DE, Bergeron C. Cortical-basal ganglionic degeneration. In: Calne DB, editor. Neurodegeneration diseases. Philadelphia: WB Saunders; 1994. p. 877\u201394."},{"key":"809_CR27","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1212\/WNL.47.5.1113","volume":"47","author":"IG McKeith","year":"1996","unstructured":"McKeith IG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathological diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology. 1996;47:1113\u201324.","journal-title":"Neurology"},{"key":"809_CR28","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","volume":"12","author":"MF Folstein","year":"1975","unstructured":"Folstein MF, Folstein SE, McHugh PR. \u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189\u201398.","journal-title":"J Psychiatr Res"},{"key":"809_CR29","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1212\/WNL.55.11.1621","volume":"55","author":"B Dubois","year":"2000","unstructured":"Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a frontal assessment battery at bedside. Neurology. 2000;55:1621\u20136.","journal-title":"Neurology"},{"key":"809_CR30","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","volume":"34","author":"G McKhann","year":"1984","unstructured":"McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer\u2019s disease: report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer\u2019s disease. Neurology. 1984;34:939\u201344.","journal-title":"Neurology"},{"key":"809_CR31","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000096129","volume":"27","author":"DA Bennett","year":"2006","unstructured":"Bennett DA, Schneider JA, Aggarwal NT, et al. Decision rules guiding the clinical diagnosis of Alzheimer\u2019s disease in two community-based cohort studies compared to standard practice in a clinic-based cohort study. Neuroepidemiology. 2006;27:169\u201376.","journal-title":"Neuroepidemiology"},{"key":"809_CR32","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23755","author":"DA Hall","year":"2011","unstructured":"Hall DA, Berry-Kravis E, Zhang W, et al. FMR1 gray-zone alleles: association with Parkinson\u2019s disease in women? Mov Disord. 2011. doi: 10.1002\/mds.23755 .","journal-title":"Mov Disord"},{"key":"809_CR33","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1001\/jama.1994.03510310037035","volume":"271","author":"AK Taylor","year":"1994","unstructured":"Taylor AK, Safanda JF, Fall MZ, et al. Molecular predictors of cognitive impairment in female carriers of fragile X syndrome. JAMA. 1994;271:507\u201314.","journal-title":"JAMA"},{"key":"809_CR34","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1093\/hmg\/ddp479","volume":"19","author":"Y Chen","year":"2010","unstructured":"Chen Y, Tassone F, Berman RF, et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet. 2010;19:196\u2013208.","journal-title":"Hum Mol Genet"},{"key":"809_CR35","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1373\/clinchem.2009.136101","volume":"56","author":"S Filipovic-Sadic","year":"2010","unstructured":"Filipovic-Sadic S, Sah S, Chen L, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010;56:399\u2013408.","journal-title":"Clin Chem"},{"key":"809_CR36","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.neulet.2012.02.036","volume":"514","author":"X Zhang","year":"2012","unstructured":"Zhang X, Zhuang X, Gan S, et al. Screening for FMR1 expanded alleles in patients with parkinsonism in mainland China. Neurosci Lett. 2012;514:16\u201321.","journal-title":"Neurosci Lett"},{"key":"809_CR37","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/j.1399-0004.2009.01275.x","volume":"76","author":"DZ Loesch","year":"2009","unstructured":"Loesch DZ, Khaniani MS, Slater HR, et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet. 2009;76:471\u20136.","journal-title":"Clin Genet"},{"key":"809_CR38","doi-asserted-by":"crossref","first-page":"365","DOI":"10.3389\/fgene.2014.00365","volume":"5","author":"A Fraint","year":"2014","unstructured":"Fraint A, Vittal P, Szewka A, Bernard B, Berry-Kravis E, Hall DA. New observations in the fragile X-associated tremor\/ataxia syndrome (FXTAS) phenotype. Front Genet. 2014;5:365.","journal-title":"Front Genet"},{"key":"809_CR39","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1136\/bmj.324.7335.466","volume":"324","author":"RA Hughes","year":"2002","unstructured":"Hughes RA. Peripheral neuropathy. BMJ. 2002;324:466\u20139.","journal-title":"BMJ"},{"key":"809_CR40","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1212\/WNL.43.4.817","volume":"43","author":"PJ Dyck","year":"1993","unstructured":"Dyck PJ, Kratz KM, Karnes JL, et al. The prevalence by staged severity of various types of diabetic neuropathy, retinopathy, and nephropathy in a population-based cohort: the Rochester diabetic neuropathy study. Neurology. 1993;43:817\u201324.","journal-title":"Neurology"},{"key":"809_CR41","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","volume":"57","author":"RJ Hagerman","year":"2001","unstructured":"Hagerman RJ, Leehey MA, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in older male carriers of fragile X. Neurology. 2001;57:127\u201330.","journal-title":"Neurology"},{"key":"809_CR42","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1086\/374321","volume":"72","author":"S Jacquemont","year":"2003","unstructured":"Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor\/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003;72:869.","journal-title":"Am J Hum Genet"},{"key":"809_CR43","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1001\/jama.291.4.460","volume":"291","author":"S Jacquemont","year":"2004","unstructured":"Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor\/ataxia syndrome in a premutation carrier population. J Am Med Assoc. 2004;291:460.","journal-title":"J Am Med Assoc"},{"key":"809_CR44","first-page":"19","volume":"143A","author":"E Berry-Kravis","year":"2007","unstructured":"Berry-Kravis E, Goetz C, Leehey MA, et al. Neuropathic features in fragile X premutation carriers. Am J Hum Genet. 2007;143A:19\u201326.","journal-title":"Am J Hum Genet"},{"key":"809_CR45","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.jns.2006.05.016","volume":"248","author":"J Grigsby","year":"2006","unstructured":"Grigsby J, Brega AG, Jacquemont S, et al. Impairment in the cognitive functioning of men with fragile X-associated tremor\/ataxia syndrome (FXTAS). J Neurol Sci. 2006;248:227\u201333.","journal-title":"J Neurol Sci"},{"key":"809_CR46","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1037\/0894-4105.22.1.48","volume":"22","author":"J Grigsby","year":"2008","unstructured":"Grigsby J, Brega AG, Engle K, et al. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor\/ataxia syndrome. Neuropsychology. 2008;22:48\u201360.","journal-title":"Neuropsychology"},{"key":"809_CR47","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1001\/jama.289.23.3095","volume":"289","author":"RC Kessler","year":"2003","unstructured":"Kessler RC, Berglund P, Demler O, et al. The epidemiology of major depressive disorder: results from the National Comorbidity Survey Replication (NCS-R). JAMA. 2003;289:3095\u2013105.","journal-title":"JAMA"},{"key":"809_CR48","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1001\/archpsyc.62.6.617","volume":"62","author":"RC Kessler","year":"2005","unstructured":"Kessler RC, Chiu WT, Demler O, Merikangas KR, Walters EE. Prevalence, severity, and comorbidity of 12-month DSM-IV disorders in the National Comorbidity Survey Replication. Arch Gen Psychiatry. 2005;62:617\u201327.","journal-title":"Arch Gen Psychiatry"},{"key":"809_CR49","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.b.20030","volume":"121B","author":"M Aziz","year":"2003","unstructured":"Aziz M, Stathopulu E, Callias M, et al. Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet B Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet. 2003;121B:119\u201327.","journal-title":"Am J Med Genet B Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet"},{"key":"809_CR50","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1177\/0883073812469723","volume":"29","author":"MM Renda","year":"2014","unstructured":"Renda MM, Voigt RG, Babovic-Vuksanovic D, et al. Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. J Child Neurol. 2014;29:326\u201330.","journal-title":"J Child Neurol"},{"key":"809_CR51","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<198::AID-AJMG5>3.0.CO;2-W","volume":"84","author":"LA Haddad","year":"1999","unstructured":"Haddad LA, Aguiar MJ, Costa SS, Mingroni-Netto RC, Vianna-Morgante AM, Pena SD. Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. Am J Med Genet. 1999;84:198\u2013201.","journal-title":"Am J Med Genet"},{"key":"809_CR52","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1399-0004.2004.00344.x","volume":"67","author":"RJ Mitchell","year":"2005","unstructured":"Mitchell RJ, Holden JJ, Zhang C, et al. FMR1 alleles in Tasmania: a screening study of the special educational needs population. Clin Genet. 2005;67:38\u201346.","journal-title":"Clin Genet"},{"key":"809_CR53","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1086\/302260","volume":"64","author":"DC Crawford","year":"1999","unstructured":"Crawford DC, Meadows KL, Newman JL, et al. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet. 1999;64:495\u2013507.","journal-title":"Am J Hum Genet"},{"key":"809_CR54","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<195::AID-AJMG4>3.0.CO;2-1","volume":"84","author":"PC Patsalis","year":"1999","unstructured":"Patsalis PC, Sismani C, Hettinger JA, et al. Frequencies of \u201cgrey-zone\u201d and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am J Med Genet. 1999;84:195\u20137.","journal-title":"Am J Med Genet"},{"key":"809_CR55","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1038\/ejhg.2011.41","volume":"19","author":"I Madrigal","year":"2011","unstructured":"Madrigal I, Xuncla M, Tejada MI, et al. Intermediate FMR1 alleles and cognitive and\/or behavioural phenotypes. Eur J Hum Genet: EJHG. 2011;19:921\u20133.","journal-title":"Eur J Hum Genet: EJHG"},{"key":"809_CR56","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.a.36748","volume":"167A","author":"I Jalnapurkar","year":"2015","unstructured":"Jalnapurkar I, Rafika N, Tassone F, Hagerman R. Immune mediated disorders in women with a fragile X expansion and FXTAS. Am J Med Genet A. 2015;167A:190\u20137.","journal-title":"Am J Med Genet A"},{"key":"809_CR57","first-page":"884","volume":"52","author":"AL Reiss","year":"1993","unstructured":"Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H. Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet. 1993;52:884\u201394.","journal-title":"Am J Hum Genet"},{"key":"809_CR58","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1097\/00004703-200412000-00002","volume":"25","author":"BL Goodlin-Jones","year":"2004","unstructured":"Goodlin-Jones BL, Tassone F, Gane LW, Hagerman RJ. Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr: JDBP. 2004;25:392\u20138.","journal-title":"J Dev Behav Pediatr: JDBP"},{"key":"809_CR59","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/S1474-4422(13)70125-X","volume":"12","author":"R Hagerman","year":"2013","unstructured":"Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor\/ataxia syndrome. Lancet Neurol. 2013;12:786\u201398.","journal-title":"Lancet Neurol"},{"key":"809_CR60","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bandc.2004.08.020","volume":"57","author":"K Cornish","year":"2005","unstructured":"Cornish K, Kogan C, Turk J, et al. The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn. 2005;57:53\u201360.","journal-title":"Brain Cogn"},{"key":"809_CR61","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.b.30241","volume":"139B","author":"D Hessl","year":"2005","unstructured":"Hessl D, Tassone F, Loesch DZ, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet. 2005;139B:115\u201321.","journal-title":"Am J Med Genet B Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet"},{"key":"809_CR62","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ajmg.1561","volume":"103","author":"C Johnston","year":"2001","unstructured":"Johnston C, Eliez S, Dyer-Friedman J, et al. Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet. 2001;103:314\u20139.","journal-title":"Am J Med Genet"},{"key":"809_CR63","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1399-0004.2011.01723.x","volume":"80","author":"R Willemsen","year":"2011","unstructured":"Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. Clin Genet. 2011;80:214\u201325.","journal-title":"Clin Genet"},{"key":"809_CR64","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1866-1955-6-23","volume":"6","author":"C Sellier","year":"2014","unstructured":"Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. The multiple molecular facets of fragile X-associated tremor\/ataxia syndrome. J Neurodev Disord. 2014;6:23.","journal-title":"J Neurodev Disord"},{"key":"809_CR65","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1093\/brain\/awh683","volume":"129","author":"CM Greco","year":"2006","unstructured":"Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS). Brain. 2006;129:243\u201355.","journal-title":"Brain"},{"key":"809_CR66","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1001\/archneur.65.4.495","volume":"65","author":"K Soontarapornchai","year":"2008","unstructured":"Soontarapornchai K, Maselli R, Fenton-Farrell G, et al. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol. 2008;65:495\u20138.","journal-title":"Arch Neurol"},{"key":"809_CR67","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1212\/01.wnl.0000239837.57475.3a","volume":"67","author":"S Cohen","year":"2006","unstructured":"Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor\/ataxia syndrome. Neurology. 2006;67:1426\u201331.","journal-title":"Neurology"},{"key":"809_CR68","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1093\/hmg\/10.14.1449","volume":"10","author":"A Kenneson","year":"2001","unstructured":"Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet. 2001;10:1449\u201354.","journal-title":"Hum Mol Genet"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-016-0809-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12311-016-0809-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-016-0809-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T07:06:57Z","timestamp":1600844817000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12311-016-0809-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,2]]},"references-count":68,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["809"],"URL":"https:\/\/doi.org\/10.1007\/s12311-016-0809-6","relation":{},"ISSN":["1473-4222","1473-4230"],"issn-type":[{"value":"1473-4222","type":"print"},{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,2]]}}}