Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Author:
Publisher
Massachusetts Medical Society
Subject
General Medicine
Link
http://www.nejm.org/doi/pdf/10.1056/NEJMc2301605
Reference5 articles.
1. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
2. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
3. Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype
4. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
5. Genome-wide profiling of heritable and de novo STR variations
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1. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B);Annals of Neurology;2024-09-12
2. Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia;Journal of Human Genetics;2024-06-12
3. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards;Journal of Neurology, Neurosurgery & Psychiatry;2024-05-14
4. The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations;Clinical Genetics;2024-01-14
5. Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4;Movement Disorders;2024-01-10
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