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. 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
2. Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4;Movement Disorders;2024-01-10
3. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia;Clinical and Translational Medicine;2024-01
4. A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11;The Cerebellum;2023-10-17
5. New Horizons on the Diagnosis of Hereditary Ataxia;Movement Disorders Clinical Practice;2023-09-08
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