{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:08:27Z","timestamp":1792800507050,"version":"4.5.0"},"reference-count":210,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T00:00:00Z","timestamp":1646006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Microsatellites are repeated DNA sequences of 3\u20136 nucleotides highly variable in length and sequence and that have important roles in genomes regulation and evolution. However, expansion of a subset of these microsatellites over a threshold size is responsible of more than 50 human genetic diseases. Interestingly, some of these disorders are caused by expansions of similar sequences, sizes and localizations and present striking similarities in clinical manifestations and histopathological features, which suggest a common mechanism of disease. Notably, five identical CGG repeat expansions, but located in different genes, are the causes of fragile X-associated tremor\/ataxia syndrome (FXTAS), neuronal intranuclear inclusion disease (NIID), oculopharyngodistal myopathy type 1 to 3 (OPDM1-3) and oculopharyngeal myopathy with leukoencephalopathy (OPML), which are neuromuscular and neurodegenerative syndromes with overlapping symptoms and similar histopathological features, notably the presence of characteristic eosinophilic ubiquitin-positive intranuclear inclusions. In this review we summarize recent finding in neuronal intranuclear inclusion disease and FXTAS, where the causing CGG expansions were found to be embedded within small upstream ORFs (uORFs), resulting in their translation into novel proteins containing a stretch of polyglycine (polyG). Importantly, expression of these polyG proteins is toxic in animal models and is sufficient to reproduce the formation of ubiquitin-positive intranuclear inclusions. These data suggest the existence of a novel class of human genetic pathology, the polyG diseases, and question whether a similar mechanism may exist in other diseases, notably in OPDM and OPML.<\/jats:p>","DOI":"10.3389\/fgene.2022.843014","type":"journal-article","created":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T06:40:27Z","timestamp":1646030427000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":45,"title":["Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?"],"prefix":"10.3389","volume":"13","author":[{"given":"Manon","family":"Boivin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Charlet-Berguerand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,2,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1093\/hmg\/5.7.945","article-title":"Genomic Structure of HOXD13 Gene: a Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families","volume":"5","author":"Akarsu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.gde.2005.04.003","article-title":"The Other Trinucleotide Repeat: Polyalanine Expansion Disorders","volume":"15","author":"Albrecht","year":"2005","journal-title":"Curr. Opin. Genet. Develop."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1007\/s00401-019-02083-z","article-title":"Production of Poly(GA) in C9ORF72 Patient Motor Neurons Derived from Induced Pluripotent Stem Cells","volume":"138","author":"Almeida","year":"2019","journal-title":"Acta Neuropathol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1038\/ng1130","article-title":"Polyalanine Expansion and Frameshift Mutations of the Paired-like Homeobox Gene PHOX2B in Congenital central Hypoventilation Syndrome","volume":"33","author":"Amiel","year":"2003","journal-title":"Nat. Genet."},{"key":"B5","doi-asserted-by":"publisher","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":"B6","doi-asserted-by":"publisher","first-page":"3661","DOI":"10.1093\/hmg\/ddi394","article-title":"Induction of Inclusion Formation and Disruption of Lamin A\/C Structure by Premutation CGG-Repeat RNA in Human Cultured Neural Cells","volume":"14","author":"Arocena","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"B7","doi-asserted-by":"publisher","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":"B8","doi-asserted-by":"publisher","first-page":"e413","DOI":"10.1016\/j.ejmg.2011.04.002","article-title":"Parent-of-origin Differences of Mutant HTT CAG Repeat Instability in Huntington's Disease","volume":"54","author":"Aziz","year":"2011","journal-title":"Eur. J. Med. Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"e100574","DOI":"10.15252\/embj.2018100574","article-title":"Reduced Autophagy upon C9ORF72 Loss Synergizes with Dipeptide Repeat Protein Toxicity in G4C2 Repeat Expansion Disorders","volume":"39","author":"Boivin","year":"2020","journal-title":"EMBO J."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1825","DOI":"10.1016\/j.neuron.2021.03.038","article-title":"Translation of GGC Repeat Expansions into a Toxic Polyglycine Protein in NIID Defines a Novel Class of Human Genetic Disorders: The polyG Diseases","volume":"109","author":"Boivin","year":"2021","journal-title":"Neuron"},{"key":"B11","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.ejmg.2017.11.001","article-title":"Potential Pathogenic Mechanisms Underlying Fragile X Tremor Ataxia Syndrome: RAN Translation And\/or RNA Gain-Of-Function?","volume":"61","author":"Boivin","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"e01954","DOI":"10.1016\/j.heliyon.2019.e01954","article-title":"Intracellular FMRpolyG-Hsp70 Complex in Fibroblast Cells from a Patient Affected by Fragile X Tremor Ataxia Syndrome","volume":"5","author":"Bonapace","year":"2019","journal-title":"Heliyon"},{"key":"B13","doi-asserted-by":"publisher","first-page":"E11020","DOI":"10.1073\/pnas.1712526114","article-title":"Disease Onset in X-Linked Dystonia-Parkinsonism Correlates with Expansion of a Hexameric Repeat within an SVA Retrotransposon in TAF1","volume":"114","author":"Bragg","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"B14","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng0298-164","article-title":"Short GCG Expansions in the PABP2 Gene Cause Oculopharyngeal Muscular Dystrophy","volume":"18","author":"Brais","year":"1998","journal-title":"Nat. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular Basis of Myotonic Dystrophy: Expansion of a Trinucleotide (CTG) Repeat at the 3' End of a Transcript Encoding a Protein Kinase Family Member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell."},{"key":"B16","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1093\/hmg\/10.8.791","article-title":"Holoprosencephaly Due to Mutations in ZIC2: Alanine Tract Expansion Mutations May Be Caused by Parental Somatic Recombination","volume":"10","author":"Brown","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B17","doi-asserted-by":"publisher","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":"B18","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"B19","doi-asserted-by":"publisher","first-page":"4055","DOI":"10.1007\/s10072-021-05498-3","article-title":"NOTCH2NLC-related Repeat Expansion Disorders: an Expanding Group of Neurodegenerative Disorders","volume":"42","author":"Cao","year":"2021","journal-title":"Neurol. Sci."},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-021-01622-4","article-title":"Expanding the Clinical Spectrum of Adult-Onset Neuronal Intranuclear Inclusion Disease","author":"Cao","year":"2021","journal-title":"Acta Neurol. Belg."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1002\/acn3.51189","article-title":"Re-defining the Clinicopathological Spectrum of Neuronal Intranuclear Inclusion Disease","volume":"7","author":"Chen","year":"","journal-title":"Ann. Clin. Transl Neurol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"1716","DOI":"10.1002\/acn3.51151","article-title":"Neuronal Intranuclear Inclusion Disease Is Genetically Heterogeneous","volume":"7","author":"Chen","year":"","journal-title":"Ann. Clin. Transl Neurol."},{"key":"B23","doi-asserted-by":"publisher","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":"Cid-Samper","year":"2018","journal-title":"Cell Rep"},{"key":"B24","doi-asserted-by":"publisher","first-page":"16127","DOI":"10.1074\/jbc.r118.003237","article-title":"Repeat-associated Non-ATG (RAN) Translation","volume":"293","author":"Cleary","year":"2018","journal-title":"J. Biol. Chem."},{"key":"B25","doi-asserted-by":"publisher","first-page":"4533","DOI":"10.1128\/mcb.8.10.4533-4536.1988","article-title":"Efficiency of Translation Initiation by Non-AUG Codons in Saccharomyces cerevisiae","volume":"8","author":"Clements","year":"1988","journal-title":"Mol. Cel Biol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1093\/humrep\/13.5.1184","article-title":"Fragile X Premutation Screening in Women with Premature Ovarian Failure","volume":"13","author":"Conway","year":"1998","journal-title":"Hum. Reprod."},{"key":"B27","doi-asserted-by":"publisher","first-page":"4920","DOI":"10.1038\/s41467-019-12671-y","article-title":"Intronic ATTTC Repeat Expansions in STARD7 in Familial Adult Myoclonic Epilepsy Linked to Chromosome 2","volume":"10","author":"Corbett","year":"2019","journal-title":"Nat. Commun."},{"key":"B28","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat. Genet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"1591","DOI":"10.1093\/hmg\/10.15.1591","article-title":"Spectrum of FOXL2 Gene Mutations in Blepharophimosis-Ptosis-Epicanthus Inversus (BPES) Families Demonstrates a Genotype\u2013Phenotype Correlation","volume":"10","author":"De Baere","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"B31","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1136\/jmedgenet-2019-106268","article-title":"Long-read Sequencing Identified Repeat Expansions in the 5'UTR of the NOTCH2NLC Gene from Chinese Patients with Neuronal Intranuclear Inclusion Disease","volume":"56","author":"Deng","year":"2019","journal-title":"J. Med. Genet."},{"key":"B32","doi-asserted-by":"publisher","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":"B33","doi-asserted-by":"publisher","first-page":"107649","DOI":"10.1136\/jmedgenet-2020-107649","article-title":"Genetic Origin of Sporadic Cases and RNA Toxicity in Neuronal Intranuclear Inclusion Disease","volume":"2020","author":"Deng","year":"2021","journal-title":"J. Med. Genet."},{"key":"B34","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1016\/j.ajhg.2021.03.011","article-title":"30 Years of Repeat Expansion Disorders: What Have We Learned and what Are the Remaining Challenges?","volume":"108","author":"Depienne","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"B35","doi-asserted-by":"publisher","first-page":"216","DOI":"10.3389\/fgene.2018.00216","article-title":"Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats","volume":"9","author":"Derbis","year":"2018","journal-title":"Front. Genet."},{"key":"B36","doi-asserted-by":"publisher","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":"B37","doi-asserted-by":"publisher","first-page":"fcab007","DOI":"10.1093\/braincomms\/fcab007","article-title":"Neuropathology of FMR1-Premutation Carriers Presenting with Dementia and Neuropsychiatric Symptoms","volume":"3","author":"Dijkstra","year":"2021","journal-title":"Brain Commun."},{"key":"B38","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1021\/cb300135h","article-title":"A Small Molecule that Targets R(CGG)(exp) and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome","volume":"7","author":"Disney","year":"2012","journal-title":"ACS Chem. Biol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1212\/wnl.0b013e318207b043","article-title":"Oculopharyngodistal Myopathy Is a Distinct Entity: Clinical and Genetic Features of 47 Patients","volume":"76","author":"Durmus","year":"2011","journal-title":"Neurology"},{"key":"B40","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.gene.2007.02.026","article-title":"Regional FMRP Deficits and Large Repeat Expansions into the Full Mutation Range in a New Fragile X Premutation Mouse Model","volume":"395","author":"Entezam","year":"2007","journal-title":"Gene"},{"key":"B41","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmedgenet-2021-107883","article-title":"NOTCH2NLC-related Disorders: the Widening Spectrum and Genotype-Phenotype Correlation","volume":"59","author":"Fan","year":"2022","journal-title":"J. Med. Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1002\/acn3.51021","article-title":"Repeat Expansion Scanning of the NOTCH2NLC Gene in Patients with Multiple System Atrophy","volume":"7","author":"Fang","year":"2020","journal-title":"Ann. Clin. Transl Neurol."},{"key":"B43","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1093\/hmg\/11.7.805","article-title":"Three Proteins, MBNL, MBLL and MBXL, Co-localize In Vivo with Nuclear Foci of Expanded-Repeat Transcripts in DM1 and DM2 Cells","volume":"11","author":"Fardaei","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"B44","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1126\/science.7732383","article-title":"Translational Suppression by Trinucleotide Repeat Expansion at FMR1","volume":"268","author":"Feng","year":"1995","journal-title":"Science"},{"key":"B45","doi-asserted-by":"publisher","first-page":"1356","DOI":"10.1016\/j.cell.2018.03.051","article-title":"Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis","volume":"173","author":"Fiddes","year":"2018","journal-title":"Cell."},{"key":"B46","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1016\/j.molcel.2015.11.013","article-title":"A Regression-Based Analysis of Ribosome-Profiling Data Reveals a Conserved Complexity to Mammalian Translation","volume":"60","author":"Fields","year":"2015","journal-title":"Mol. Cel."},{"key":"B47","doi-asserted-by":"publisher","first-page":"4919","DOI":"10.1038\/s41467-019-12763-9","article-title":"Unstable TTTTA\/TTTCA Expansions in MARCH6 Are Associated with Familial Adult Myoclonic Epilepsy Type 3","volume":"10","author":"Florian","year":"2019","journal-title":"Nat. Commun."},{"key":"B48","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1016\/0092-8674(91)90283-5","article-title":"Variation of the CGG Repeat at the Fragile X Site Results in Genetic Instability: Resolution of the Sherman Paradox","volume":"67","author":"Fu","year":"1991","journal-title":"Cell."},{"key":"B49","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1126\/science.1546326","article-title":"An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy","volume":"255","author":"Fu","year":"1992","journal-title":"Science"},{"key":"B50","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1186\/s13148-021-01192-5","article-title":"Father-to-offspring Transmission of Extremely Long NOTCH2NLC Repeat Expansions with Contractions: Genetic and Epigenetic Profiling with Long-Read Sequencing","volume":"13","author":"Fukuda","year":"2021","journal-title":"Clin. Epigenetics"},{"key":"B51","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1016\/j.cell.2017.10.042","article-title":"Rethinking Unconventional Translation in Neurodegeneration","volume":"171","author":"Gao","year":"2017","journal-title":"Cell."},{"key":"B52","doi-asserted-by":"publisher","first-page":"e51","DOI":"10.1093\/brain\/awx156","article-title":"Neuronal Intranuclear (Hyaline) Inclusion Disease and Fragile X-Associated Tremor\/ataxia Syndrome: a Morphological and Molecular Dilemma","volume":"140","author":"Gelpi","year":"2017","journal-title":"Brain"},{"key":"B53","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.brainres.2018.02.006","article-title":"Repeat-associated Non-AUG (RAN) Translation and Other Molecular Mechanisms in Fragile X Tremor Ataxia Syndrome","volume":"1693","author":"Glineburg","year":"2018","journal-title":"Brain Res."},{"key":"B54","doi-asserted-by":"publisher","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":"B55","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1086\/302961","article-title":"Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome","volume":"67","author":"Goodman","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1093\/brain\/awh683","article-title":"Neuropathology of Fragile X-Associated Tremor\/ataxia Syndrome (FXTAS)","volume":"1","author":"Greco","year":"2006","journal-title":"Brain"},{"key":"B57","doi-asserted-by":"publisher","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":"B58","doi-asserted-by":"publisher","first-page":"18624","DOI":"10.1074\/jbc.ra119.009951","article-title":"High-throughput Screening Yields Several Small-Molecule Inhibitors of Repeat-Associated Non-AUG Translation","volume":"294","author":"Green","year":"2019","journal-title":"J. Biol. Chem."},{"key":"B59","doi-asserted-by":"publisher","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":"1","author":"Hagerman","year":"2001","journal-title":"Neurology"},{"key":"B60","doi-asserted-by":"publisher","first-page":"1632","DOI":"10.1093\/hmg\/ddab143","article-title":"Small Molecule 1a Reduces FMRpolyG-Mediated Toxicity in In Vitro and In Vivo Models for FMR1 Premutation","volume":"30","author":"Haify","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"B61","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/355545a0","article-title":"Expansion of an Unstable DNA Region and Phenotypic Variation in Myotonic Dystrophy","volume":"355","author":"Harley","year":"1992","journal-title":"Nature"},{"key":"B62","doi-asserted-by":"publisher","first-page":"2443","DOI":"10.1093\/hmg\/ddp182","article-title":"Ectopic Expression of CGG Containing mRNA Is Neurotoxic in Mammals","volume":"18","author":"Hashem","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"B63","doi-asserted-by":"publisher","first-page":"e51685","DOI":"10.7554\/eLife.51685","article-title":"C9orf72 Arginine-Rich Dipeptide Repeat Proteins Disrupt Karyopherin-Mediated Nuclear Import","volume":"9","author":"Hayes","year":"2020","journal-title":"Elife"},{"key":"B64","doi-asserted-by":"publisher","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":"B65","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1126\/science.aad9868","article-title":"Translational Control by 5'-untranslated Regions of Eukaryotic mRNAs","volume":"352","author":"Hinnebusch","year":"2016","journal-title":"Science"},{"key":"B66","doi-asserted-by":"publisher","first-page":"249","DOI":"10.3389\/fgene.2019.00249","article-title":"The FMRpolyGlycine Protein Mediates Aggregate Formation and Toxicity Independent of the CGG mRNA Hairpin in a Cellular Model for FXTAS","volume":"10","author":"Hoem","year":"2019","journal-title":"Front. Genet."},{"key":"B67","doi-asserted-by":"publisher","first-page":"600840","DOI":"10.3389\/fmolb.2020.600840","article-title":"Human Cerebral Cortex Proteome of Fragile X-Associated Tremor\/Ataxia Syndrome","volume":"7","author":"Holm","year":"2021","journal-title":"Front. Mol. Biosci."},{"key":"B68","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1038\/70493","article-title":"Expansion of a Novel CAG Trinucleotide Repeat in the 5' Region of PPP2R2B Is Associated with SCA12","volume":"23","author":"Holmes","year":"1999","journal-title":"Nat. Genet."},{"key":"B69","doi-asserted-by":"publisher","first-page":"4948","DOI":"10.1093\/hmg\/ddv216","article-title":"Reversibility of Neuropathology and Motor Deficits in an Inducible Mouse Model for FXTAS","volume":"24","author":"Hukema","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B70","doi-asserted-by":"publisher","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":"B71","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1016\/j.cell.2011.10.002","article-title":"Ribosome Profiling of Mouse Embryonic Stem Cells Reveals the Complexity and Dynamics of Mammalian Proteomes","volume":"147","author":"Ingolia","year":"2011","journal-title":"Cell."},{"key":"B72","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/s41588-018-0067-2","article-title":"Expansions of Intronic TTTCA and TTTTA Repeats in Benign Adult Familial Myoclonic Epilepsy","volume":"50","author":"Ishiura","year":"2018","journal-title":"Nat. Genet."},{"key":"B73","doi-asserted-by":"publisher","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":"B74","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.gde.2020.05.029","article-title":"Advances in Repeat Expansion Diseases and a New Concept of Repeat Motif-Phenotype Correlation","volume":"65","author":"Ishiura","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B75","doi-asserted-by":"publisher","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":"B76","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1086\/374321","article-title":"Fragile X Premutation Tremor\/ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates","volume":"4","author":"Jacquemont","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"B77","doi-asserted-by":"publisher","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":"B78","doi-asserted-by":"publisher","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":"B79","doi-asserted-by":"publisher","first-page":"706","DOI":"10.15252\/embj.201592759","article-title":"Upstream ORFs Are Prevalent Translational Repressors in Vertebrates","volume":"35","author":"Johnstone","year":"2016","journal-title":"EMBO J."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1038\/nn.4085","article-title":"Van Den Bosch L, Robberecht W, Gitler AD. Modifiers of C9orf72 Dipeptide Repeat Toxicity Connect Nucleocytoplasmic Transport Defects to FTD\/ALS","volume":"18","author":"Jovi\u010di\u0107","year":"2015","journal-title":"Nat. Neurosci."},{"key":"B81","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG Expansions in a Novel Gene for Machado-Joseph Disease at Chromosome 14q32.1","volume":"8","author":"Kawaguchi","year":"1994","journal-title":"Nat. Genet."},{"key":"B82","doi-asserted-by":"publisher","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. Cel."},{"key":"B83","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1101\/gad.305250.117","article-title":"Non-AUG Translation: a New Start for Protein Synthesis in Eukaryotes","volume":"31","author":"Kearse","year":"2017","journal-title":"Genes Dev."},{"key":"B84","doi-asserted-by":"publisher","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":"B85","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/s0022-510x(98)00169-5","article-title":"Familial Neuronal Intranuclear Inclusion Disease with Ubiquitin Positive Inclusions","volume":"160","author":"Kimber","year":"1998","journal-title":"J. Neurol. Sci."},{"key":"B86","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/0092-8674(93)90300-f","article-title":"Trinucleotide Repeat Amplification and Hypermethylation of a CpG Island in FRAXE Mental Retardation","volume":"74","author":"Knight","year":"1993","journal-title":"Cell."},{"key":"B87","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.ajhg.2011.05.015","article-title":"Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement","volume":"89","author":"Kobayashi","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"B88","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/ng0194-9","article-title":"Unstable Expansion of CAG Repeat in Hereditary Dentatorubral-Pallidoluysian Atrophy (DRPLA)","volume":"6","author":"Koide","year":"1994","journal-title":"Nat. Genet."},{"key":"B89","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1093\/hmg\/8.11.2047","article-title":"A Neurological Disease Caused by an Expanded CAG Trinucleotide Repeat in the TATA-Binding Protein Gene: a New Polyglutamine Disease?","volume":"8","author":"Koide","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"B90","doi-asserted-by":"publisher","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":"B91","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/7710","article-title":"An Untranslated CTG Expansion Causes a Novel Form of Spinocerebellar Ataxia (SCA8)","volume":"21","author":"Koob","year":"1999","journal-title":"Nat. Genet."},{"key":"B92","doi-asserted-by":"publisher","first-page":"5073","DOI":"10.1128\/mcb.9.11.5073-5080.1989","article-title":"Context Effects and Inefficient Initiation at Non-AUG Codons in Eucaryotic Cell-free Translation Systems","volume":"9","author":"Kozak","year":"1989","journal-title":"Mol. Cel Biol."},{"key":"B93","doi-asserted-by":"publisher","first-page":"8301","DOI":"10.1073\/pnas.87.21.8301","article-title":"Downstream Secondary Structure Facilitates Recognition of Initiator Codons by Eukaryotic Ribosomes","volume":"87","author":"Kozak","year":"1990","journal-title":"Proc. Natl. Acad. Sci. U S A."},{"key":"B94","doi-asserted-by":"publisher","first-page":"5233","DOI":"10.1093\/nar\/9.20.5233","article-title":"Possible Role of Flanking Nucleotides in Recognition of the AUG Initiator Codon by Eukaryotic Ribosomes","volume":"9","author":"Kozak","year":"1981","journal-title":"Nucleic Acids Res."},{"key":"B95","doi-asserted-by":"publisher","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":"B96","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1126\/science.1675488","article-title":"Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence p(CCG)n","volume":"252","author":"Kremer","year":"1991","journal-title":"Science"},{"key":"B97","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1001\/jamaneurol.2021.1509","article-title":"Clinicopathologic Features of Oculopharyngodistal Myopathy with LRP12 CGG Repeat Expansions Compared with Other Oculopharyngodistal Myopathy Subtypes","volume":"78","author":"Kumutpongpanich","year":"2021","journal-title":"JAMA Neurol."},{"key":"B98","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen Receptor Gene Mutations in X-Linked Spinal and Bulbar Muscular Atrophy","volume":"352","author":"La Spada","year":"1991","journal-title":"Nature"},{"key":"B99","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.ajhg.2018.11.005","article-title":"GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome","volume":"104","author":"LaCroix","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B210","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/386847a0","article-title":"Dodecamer Repeat Expansion in Cystatin B Gene in Progressive Myoclonus Epilepsy","volume":"386","author":"Lalioti","year":"1997","journal-title":"Nature"},{"key":"B100","doi-asserted-by":"publisher","first-page":"104533","DOI":"10.1016\/j.nbd.2019.104533","article-title":"Molecular Genetics of Congenital Myotonic Dystrophy","volume":"132","author":"Lanni","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"B101","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1086\/344661","article-title":"Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency","volume":"71","author":"Laumonnier","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"B102","doi-asserted-by":"publisher","first-page":"E2424","DOI":"10.1073\/pnas.1207846109","article-title":"Global Mapping of Translation Initiation Sites in Mammalian Cells at Single-Nucleotide Resolution","volume":"109","author":"Lee","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U S A."},{"key":"B103","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1146\/annurev-pathmechdis-012418-012857","article-title":"Polyglutamine Repeats in Neurodegenerative Diseases","volume":"14","author":"Lieberman","year":"2019","journal-title":"Annu. Rev. Pathol."},{"key":"B104","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.parkreldis.2020.03.025","article-title":"Adult-onset Neuronal Intranuclear Inclusion Disease Mimicking Fragile X-Associated Tremor-Ataxia Syndrome in Ethnic Chinese Patients","volume":"74","author":"Lim","year":"2020","journal-title":"Parkinsonism Relat. Disord."},{"key":"B105","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1101\/gr.6.10.965","article-title":"An Expanded CAG Repeat Sequence in Spinocerebellar Ataxia Type 7","volume":"6","author":"Lindblad","year":"1996","journal-title":"Genome Res."},{"key":"B106","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1007\/bf00690510","article-title":"A Light and Electron Microscopy Study of an Unusual Widespread Nuclear Inclusion Body Disease. A Possible Residuum of an Old Herpesvirus Infection","volume":"10","author":"Lindenberg","year":"1968","journal-title":"Acta Neuropathol."},{"key":"B107","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"key":"B108","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1007\/s00401-008-0442-7","article-title":"Inclusion-positive Cell Types in Adult-Onset Intranuclear Inclusion Body Disease: Implications for Clinical Diagnosis","volume":"116","author":"Liu","year":"2008","journal-title":"Acta Neuropathol."},{"key":"B109","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1111\/j.1440-1789.2008.00924.x","article-title":"The Clinical and Myopathological Features of Oculopharyngodistal Myopathy in a Chinese Family","volume":"28","author":"Lu","year":"2008","journal-title":"Neuropathology"},{"key":"B110","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1001\/jamaneurol.2020.3023","article-title":"Association of NOTCH2NLC Repeat Expansions with Parkinson Disease","volume":"77","author":"Ma","year":"2020","journal-title":"JAMA Neurol."},{"key":"B111","doi-asserted-by":"publisher","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":"B112","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3' Untranslated Region of the Gene","volume":"255","author":"Mahadevan","year":"1992","journal-title":"Science"},{"key":"B113","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1038\/s41580-021-00382-6","article-title":"Molecular Mechanisms Underlying Nucleotide Repeat Expansion Disorders","volume":"22","author":"Malik","year":"","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B114","doi-asserted-by":"publisher","first-page":"e14163","DOI":"10.15252\/emmm.202114163","article-title":"SRSF Protein Kinase 1 Modulates RAN Translation and Suppresses CGG Repeat Toxicity","volume":"13","author":"Malik","year":"","journal-title":"EMBO Mol. Med."},{"key":"B115","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1002\/ana.1312","article-title":"A Disorder Similar to Huntington's Disease Is Associated with a Novel CAG Repeat Expansion","volume":"50","author":"Margolis","year":"2001","journal-title":"Ann. Neurol."},{"key":"B116","doi-asserted-by":"publisher","first-page":"100348","DOI":"10.1016\/j.ensci.2021.100348","article-title":"Neuropathy\/intranuclear Inclusion Bodies in Oculopharyngodistal Myopathy: A Case Report","volume":"24","author":"Matsubara","year":"2021","journal-title":"eNeurologicalSci."},{"key":"B117","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/79911","article-title":"Large Expansion of the ATTCT Pentanucleotide Repeat in Spinocerebellar Ataxia Type 10","volume":"26","author":"Matsuura","year":"2000","journal-title":"Nat. Genet."},{"key":"B118","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/j.neuron.2020.04.011","article-title":"Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS\/FTD and SCA36","volume":"107","author":"McEachin","year":"2020","journal-title":"Neuron"},{"key":"B119","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1007\/bf00689403","article-title":"Multiple System Atrophy with Neuronal Intranuclear Hyaline Inclusions. Report of a New Case with Light and Electron Microscopic Studies","volume":"54","author":"Michaud","year":"1981","journal-title":"Acta Neuropathol."},{"key":"B120","doi-asserted-by":"publisher","first-page":"4439","DOI":"10.1093\/emboj\/19.17.4439","article-title":"Recruitment of Human Muscleblind Proteins to (CUG)(n) Expansions Associated with Myotonic Dystrophy","volume":"19","author":"Miller","year":"2000","journal-title":"EMBO J."},{"key":"B121","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/s0960-8966(01)00227-9","article-title":"Oculopharyngodistal Myopathy Is Genetically Heterogeneous and Most Cases Are Distinct from Oculopharyngeal Muscular Dystrophy","volume":"11","author":"Minami","year":"2001","journal-title":"Neuromuscul. Disord."},{"key":"B122","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1167\/iovs.13-12611","article-title":"Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy","volume":"55","author":"Mootha","year":"2014","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B123","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1111\/j.1440-1827.2012.02812.x","article-title":"Ubiquitin-related Proteins in Neuronal and Glial Intranuclear Inclusions in Intranuclear Inclusion Body Disease","volume":"62","author":"Mori","year":"2012","journal-title":"Pathol. Int."},{"key":"B124","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1007\/s00439-017-1807-6","article-title":"Protein Sequestration as a normal Function of Long Noncoding RNAs and a Pathogenic Mechanism of RNAs Containing Nucleotide Repeat Expansions","volume":"136","author":"Morriss","year":"2017","journal-title":"Hum. Genet."},{"key":"B125","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1038\/ng1827","article-title":"Bidirectional Expression of CUG and CAG Expansion Transcripts and Intranuclear Polyglutamine Inclusions in Spinocerebellar Ataxia Type 8","volume":"38","author":"Moseley","year":"2006","journal-title":"Nat. Genet."},{"key":"B126","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/s0092-8674(00)80260-3","article-title":"Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia","volume":"89","author":"Mundlos","year":"1997","journal-title":"Cell."},{"key":"B127","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1212\/wnl.36.6.785","article-title":"Adult-onset Neuronal Intranuclear Hyaline Inclusion Disease","volume":"36","author":"Munoz-Garcia","year":"1986","journal-title":"Neurology"},{"key":"B128","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/ng0194-14","article-title":"Dentatorubral and Pallidoluysian Atrophy Expansion of an Unstable CAG Trinucleotide on Chromosome 12p","volume":"6","author":"Nagafuchi","year":"1994","journal-title":"Nat. Genet."},{"key":"B129","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1167\/iovs.61.11.27","article-title":"Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy with CGG Repeat Expansions in the NOTCH2NLC Gene","volume":"61","author":"Nakamura","year":"2020","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B130","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1002\/ana.25803","article-title":"NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-Up","volume":"88","author":"Ng","year":"","journal-title":"Ann. Neurol."},{"key":"B131","doi-asserted-by":"publisher","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":"","journal-title":"Brain"},{"key":"B132","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1146\/annurev-neuro-070918-050405","article-title":"Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease","volume":"42","author":"Nguyen","year":"2019","journal-title":"Annu. Rev. Neurosci."},{"key":"B133","doi-asserted-by":"publisher","first-page":"1148","DOI":"10.1002\/ajmg.a.61165","article-title":"Expansions and Contractions of the FMR1 CGG Repeat in 5,508 Transmissions of normal, Intermediate, and Premutation Alleles","volume":"179","author":"Nolin","year":"2019","journal-title":"Am. J. Med. Genet. A."},{"key":"B134","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","article-title":"Instability of a 550-base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome","volume":"252","author":"Oberl\u00e9","year":"1991","journal-title":"Science"},{"key":"B135","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1111\/j.1440-1789.2011.01267.x","article-title":"Immunohistochemical Analysis of Marinesco Bodies, Using Antibodies against Proteins Implicated in the Ubiquitin-Proteasome System, Autophagy and Aggresome Formation","volume":"32","author":"Odagiri","year":"2012","journal-title":"Neuropathology"},{"key":"B136","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12787","article-title":"Intranuclear Inclusions in Skin Biopsies Are Not Limited to Neuronal Intranuclear Inclusion Disease but Can Also Be Seen in Oculopharyngodistal Myopathy","author":"Ogasawara","year":"2021","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"B137","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1186\/s40478-020-01084-4","article-title":"CGG Expansion in NOTCH2NLC Is Associated with Oculopharyngodistal Myopathy with Neurological Manifestations","volume":"8","author":"Ogasawara","year":"2020","journal-title":"Acta Neuropathol. Commun."},{"key":"B138","doi-asserted-by":"publisher","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":"B139","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1002\/ana.25586","article-title":"GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy","volume":"86","author":"Okubo","year":"2019","journal-title":"Ann. Neurol."},{"key":"B140","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng0793-221","article-title":"Expansion of an Unstable Trinucleotide CAG Repeat in Spinocerebellar Ataxia Type 1","volume":"4","author":"Orr","year":"1993","journal-title":"Nat. Genet."},{"key":"B141","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/0022-510x(85)90022-x","article-title":"Multiple System Atrophy with Neuronal Intranuclear Hyaline Inclusions. Report of a Case and Review of the Literature","volume":"67","author":"Patel","year":"1985","journal-title":"J. Neurol. Sci."},{"key":"B142","doi-asserted-by":"publisher","first-page":"5031","DOI":"10.1016\/s0021-9258(18)83694-8","article-title":"Translation Initiation at Non-AUG Triplets in Mammalian Cells","volume":"264","author":"Peabody","year":"1989","journal-title":"J. Biol. Chem."},{"key":"B143","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1016\/j.expneurol.2003.07.004","article-title":"SUMO-1 marks the Nuclear Inclusions in Familial Neuronal Intranuclear Inclusion Disease","volume":"184","author":"Pountney","year":"2003","journal-title":"Exp. Neurol."},{"key":"B144","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate Expansion of a Normally Biallelic Trinucleotide Repeat in Spinocerebellar Ataxia Type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat. Genet."},{"key":"B145","doi-asserted-by":"publisher","first-page":"e1002102","DOI":"10.1371\/journal.pgen.1002102","article-title":"Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats","volume":"7","author":"Qurashi","year":"2011","journal-title":"Plos Genet."},{"key":"B146","doi-asserted-by":"publisher","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":"B147","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ajhg.2019.05.016","article-title":"Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS","volume":"105","author":"Rafehi","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B148","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"B149","doi-asserted-by":"publisher","first-page":"e23","DOI":"10.1136\/jmg.2005.037598","article-title":"Oculopharyngeal Muscular Dystrophy: a point Mutation Which Mimics the Effect of the PABPN1 Gene Triplet Repeat Expansion Mutation","volume":"43","author":"Robinson","year":"2006","journal-title":"J. Med. Genet."},{"key":"B150","doi-asserted-by":"publisher","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":"B151","doi-asserted-by":"publisher","first-page":"3980","DOI":"10.1167\/iovs.19-27641","article-title":"Quantitative Studies of Muscleblind Proteins and Their Interaction with TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy","volume":"60","author":"Rong","year":"2019","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B152","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/s40478-020-00945-2","article-title":"Oculopharyngodistal Myopathy with Coexisting Histology of Systemic Neuronal Intranuclear Inclusion Disease: Clinicopathologic Features of an Autopsied Patient Harboring CGG Repeat Expansions in LRP12","volume":"8","author":"Saito","year":"2020","journal-title":"Acta Neuropathol. Commun."},{"key":"B153","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1016\/j.ajhg.2009.09.019","article-title":"Spinocerebellar Ataxia Type 31 Is Associated with \"inserted\" Penta-Nucleotide Repeats Containing (TGGAA)n","volume":"85","author":"Sato","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"B154","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1001\/archneur.1977.00500140043007","article-title":"Oculopharyngodistal Myopathy","volume":"34","author":"Satoyoshi","year":"1977","journal-title":"Arch. Neurol."},{"key":"B155","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.ajhg.2017.06.007","article-title":"Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia","volume":"101","author":"Seixas","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B156","doi-asserted-by":"publisher","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":"B157","doi-asserted-by":"publisher","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":"B158","doi-asserted-by":"publisher","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":"Cel Rep"},{"key":"B159","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1007\/bf00291644","article-title":"Further Segregation Analysis of the Fragile X Syndrome with Special Reference to Transmitting Males","volume":"69","author":"Sherman","year":"1985","journal-title":"Hum. Genet."},{"key":"B160","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1111\/j.1469-1809.1984.tb00830.x","article-title":"The Marker (X) Syndrome: a Cytogenetic and Genetic Analysis","volume":"48","author":"Sherman","year":"1984","journal-title":"Ann. Hum. Genet."},{"key":"B161","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1002\/ana.25925","article-title":"NOTCH2NLC Intermediate-Length Repeat Expansions Are Associated with Parkinson Disease","volume":"89","author":"Shi","year":"2021","journal-title":"Ann. Neurol."},{"key":"B162","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/978-1-4614-5434-2_12","article-title":"Polyalanine Tract Disorders and Neurocognitive Phenotypes","volume":"769","author":"Shoubridge","year":"2012","journal-title":"Adv. Exp. Med. Biol."},{"key":"B163","doi-asserted-by":"publisher","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":"B164","doi-asserted-by":"publisher","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":"B165","doi-asserted-by":"publisher","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological Features of Adult-Onset Neuronal Intranuclear Inclusion Disease","volume":"139","author":"Sone","year":"2016","journal-title":"Brain"},{"key":"B166","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1212\/wnl.0b013e3182166e13","article-title":"Skin Biopsy Is Useful for the Antemortem Diagnosis of Neuronal Intranuclear Inclusion Disease","volume":"76","author":"Sone","year":"2011","journal-title":"Neurology"},{"key":"B167","doi-asserted-by":"publisher","first-page":"6025","DOI":"10.1038\/s41467-021-26303-x","article-title":"Elegans Model of C9orf72-Associated ALS\/FTD Uncovers a Conserved Role for eIF2D in RAN Translation","volume":"12","author":"Sonobe","year":"2021","journal-title":"Nat. Commun."},{"key":"B168","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.nbd.2018.05.009","article-title":"Translation of Dipeptide Repeat Proteins from the C9ORF72 Expanded Repeat Is Associated with Cellular Stress","volume":"116","author":"Sonobe","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"B169","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1038\/ng862","article-title":"Mutations in the Human Ortholog of Aristaless Cause X-Linked Mental Retardation and Epilepsy","volume":"30","author":"Str\u00f8mme","year":"2002","journal-title":"Nat. Genet."},{"key":"B170","doi-asserted-by":"publisher","first-page":"2100","DOI":"10.3174\/ajnr.a5336","article-title":"MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases","volume":"38","author":"Sugiyama","year":"2017","journal-title":"AJNR Am. J. Neuroradiol"},{"key":"B171","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1016\/j.cell.2018.03.067","article-title":"Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta\/Notch Regulation","volume":"173","author":"Suzuki","year":"2018","journal-title":"Cell."},{"key":"B172","doi-asserted-by":"publisher","first-page":"3365","DOI":"10.3390\/ijms20133365","article-title":"Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy","volume":"20","author":"Sznajder","year":"2019","journal-title":"Int. J. Mol. Sci."},{"key":"B173","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/s41467-017-02643-5","article-title":"CUG Initiation and Frameshifting Enable Production of Dipeptide Repeat Proteins from ALS\/FTD C9ORF72 Transcripts","volume":"9","author":"Tabet","year":"2018","journal-title":"Nat. Commun."},{"key":"B174","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1111\/ggi.12725","article-title":"Adult-onset Neuronal Intranuclear Hyaline Inclusion Disease Is Not Rare in Older Adults","volume":"16","author":"Takahashi-Fujigasaki","year":"2016","journal-title":"Geriatr. Gerontol. Int."},{"key":"B175","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1046\/j.1440-1789.2003.00524.x","article-title":"Neuronal Intranuclear Hyaline Inclusion Disease","volume":"23","author":"Takahashi-Fujigasaki","year":"2003","journal-title":"Neuropathology"},{"key":"B176","doi-asserted-by":"publisher","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":"B177","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/1096-8628(20000918)94:3<232::aid-ajmg9>3.0.co;2-h","article-title":"Fragile X Males with Unmethylated, Full Mutation Trinucleotide Repeat Expansions Have Elevated Levels of FMR1 Messenger RNA","volume":"94","author":"Tassone","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"B178","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-e","article-title":"A Novel Gene Containing a Trinucleotide Repeat that Is Expanded and Unstable on Huntington's Disease Chromosomes","volume":"72","year":"1993","journal-title":"Cell."},{"key":"B179","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","article-title":"Expansion of Human-specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders","volume":"105","author":"Tian","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B180","doi-asserted-by":"publisher","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":"B181","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1186\/s12883-021-02425-z","article-title":"FXTAS Is Difficult to Differentiate from Neuronal Intranuclear Inclusion Disease through Skin Biopsy: a Case Report","volume":"21","author":"Toko","year":"2021","journal-title":"BMC Neurol."},{"key":"B182","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1021\/cb400875u","article-title":"Targeting the R(CGG) Repeats that Cause FXTAS with Modularly Assembled Small Molecules and Oligonucleotides","volume":"9","author":"Tran","year":"2014","journal-title":"ACS Chem. Biol."},{"key":"B183","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/s0960-8966(98)00002-9","article-title":"Autosomal Recessive Oculopharyngodistal Myopathy in Light of Distal Myopathy with Rimmed Vacuoles and Oculopharyngeal Muscular Dystrophy","volume":"8","author":"Uyama","year":"1998","journal-title":"Neuromuscul. Disord."},{"key":"B184","doi-asserted-by":"publisher","first-page":"1499","DOI":"10.1136\/jnnp.2003.025072","article-title":"Autosomal Recessive Oculopharyngodistal Myopathy: a Distinct Phenotypical, Histological, and Genetic Entity","volume":"75","author":"van der Sluijs","year":"2004","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"B185","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.1056\/nejmoa1806627","article-title":"Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS","volume":"380","author":"van Kuilenburg","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"B186","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-h","article-title":"Identification of a Gene (FMR-1) Containing a CGG Repeat Coincident with a Breakpoint Cluster Region Exhibiting Length Variation in Fragile X Syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell."},{"key":"B187","doi-asserted-by":"publisher","first-page":"295","DOI":"10.3389\/fnins.2020.00295","article-title":"Curcumin Regulates the R(CGG)(exp) RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome","volume":"14","author":"Verma","year":"2020","journal-title":"Front. Neurosci."},{"key":"B188","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/s40478-019-0677-7","article-title":"Astroglial-targeted Expression of the Fragile X CGG Repeat Premutation in Mice Yields RAN Translation, Motor Deficits and Possible Evidence for Cell-To-Cell Propagation of FXTAS Pathology","volume":"7","author":"Wenzel","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"B189","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1097\/wco.0b013e3282ef6064","article-title":"Myotonic Dystrophy: RNA-Mediated Muscle Disease","volume":"20","author":"Wheeler","year":"2007","journal-title":"Curr. Opin. Neurol."},{"key":"B190","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1167\/iovs.16-20900","article-title":"Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy","volume":"58","author":"Wieben","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B191","doi-asserted-by":"publisher","first-page":"e49083","DOI":"10.1371\/journal.pone.0049083","article-title":"A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy","volume":"7","author":"Wieben","year":"2012","journal-title":"PLoS One"},{"key":"B192","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.neuron.2011.03.021","article-title":"An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice","volume":"70","author":"Wilburn","year":"2011","journal-title":"Neuron"},{"key":"B193","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1093\/hmg\/ddg114","article-title":"The FMR1 CGG Repeat Mouse Displays Ubiquitin-Positive Intranuclear Neuronal Inclusions; Implications for the Cerebellar Tremor\/ataxia Syndrome","volume":"12","author":"Willemsen","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B194","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/j.1365-2990.2006.00819.x","article-title":"Abnormalities of the Nucleus and Nuclear Inclusions in Neurodegenerative Disease: a Work in Progress","volume":"33","author":"Woulfe","year":"2007","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"B195","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1093\/brain\/awaa426","article-title":"5' UTR CGG Repeat Expansion in GIPC1 Is Associated with Oculopharyngodistal Myopathy","volume":"144","author":"Xi","year":"2021","journal-title":"Brain"},{"key":"B196","doi-asserted-by":"publisher","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 Cel Neurosci"},{"key":"B197","doi-asserted-by":"publisher","first-page":"3459","DOI":"10.2169\/internalmedicine.1141-18","article-title":"An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy","volume":"57","author":"Yamaguchi","year":"2018","journal-title":"Intern. Med."},{"key":"B198","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1111\/ene.15169","article-title":"Neuronal Intranuclear Inclusion Disease Tremor-Dominant Subtype: A Mimicker of Essential Tremor","volume":"29","author":"Yang","year":"2022","journal-title":"Eur. J. Neurol."},{"key":"B199","doi-asserted-by":"publisher","first-page":"2456","DOI":"10.1021\/acschembio.6b00147","article-title":"Disney MD.Small Molecule Recognition and Tools to Study Modulation of R(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome","volume":"11","author":"Yang","year":"2016","journal-title":"ACS Chem. Biol."},{"key":"B200","doi-asserted-by":"publisher","DOI":"10.1101\/2021.09.18.21263669","article-title":"Expansion of 5\u2019 UTR CGG Repeat in RILPL1 Is Associated with Oculopharyngodistal Myopathy","author":"Yang","year":"2021","journal-title":"medRxiv"},{"key":"B201","doi-asserted-by":"publisher","first-page":"3360","DOI":"10.1093\/brain\/awz267","article-title":"TTTCA Repeat Insertions in an Intron of YEATS2 in Benign Adult Familial Myoclonic Epilepsy Type 4","volume":"142","author":"Yeetong","year":"2019","journal-title":"Brain"},{"key":"B202","doi-asserted-by":"publisher","first-page":"1819","DOI":"10.1093\/brain\/awab077","article-title":"The GGC Repeat Expansion in NOTCH2NLC Is Associated with Oculopharyngodistal Myopathy Type 3","volume":"144","author":"Yu","year":"2021","journal-title":"Brain"},{"key":"B203","doi-asserted-by":"publisher","first-page":"e3394","DOI":"10.1212\/wnl.0000000000010945","article-title":"Identification of GGC Repeat Expansion in the NOTCH2NLC Gene in Amyotrophic Lateral Sclerosis","volume":"95","author":"Yuan","year":"2020","journal-title":"Neurology"},{"key":"B204","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1136\/jnnp.26.2.178","article-title":"The Morphology of Marinesco Bodies (Paranucleolar Corpuscles) in the Melanin-Pigmented Nuclei of the Brain-Stem","volume":"26","author":"Yuen","year":"1963","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"B205","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-021-05526-2","article-title":"Clinicopathological Features of Neuronal Intranuclear Inclusion Disease Diagnosed by Skin Biopsy","author":"Zhang","year":"2021","journal-title":"Neurol. Sci."},{"key":"B206","doi-asserted-by":"publisher","first-page":"e0128629","DOI":"10.1371\/journal.pone.0128629","article-title":"Clinical and Muscle Imaging Findings in 14 mainland Chinese Patients with Oculopharyngodistal Myopathy","volume":"10","author":"Zhao","year":"2015","journal-title":"PLoS One"},{"key":"B207","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1007\/s00401-021-02375-3","article-title":"Upstream Open reading Frame with NOTCH2NLC GGC Expansion Generates Polyglycine Aggregates and Disrupts Nucleocytoplasmic Transport: Implications for Polyglycine Diseases","volume":"142","author":"Zhong","year":"2021","journal-title":"Sacta Neuropathol."},{"key":"B208","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/ng0197-62","article-title":"Autosomal Dominant Cerebellar Ataxia (SCA6) Associated with Small Polyglutamine Expansions in the Alpha 1A-voltage-dependent Calcium Channel","volume":"15","author":"Zhuchenko","year":"1997","journal-title":"Nat. Genet."},{"key":"B209","doi-asserted-by":"publisher","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. U S A."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.843014\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T06:40:32Z","timestamp":1646030432000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.843014\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,28]]},"references-count":210,"alternative-id":["10.3389\/fgene.2022.843014"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.843014","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,28]]},"article-number":"843014"}}