GAA/FGF14 ataxia: an ode to the phenotype-first approach-Reference-Cited by-同舟云学术

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GAA/FGF14 ataxia: an ode to the phenotype-first approach

Published:2024-05 Issue: Volume:103 Page:105131
ISSN:2352-3964
Container-title:eBioMedicine
language:en
Short-container-title:eBioMedicine

Author:

Indelicato Elisabetta^ORCID,Boesch Sylvia

Publisher

Elsevier BV

Reference10 articles.

1. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia;Pellerin;N Engl J Med,2023

2. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14;Rafehi;Am J Hum Genet,2023

3. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia;Cortese;Nat Genet,2019

4. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study;Ouyang;EBioMedicine,2024

5. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort;Pellerin;EBioMedicine,2024

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic profiles of multiple system atrophy revealed by exome sequencing, long‐read sequencing and spinocerebellar ataxia repeat expansion analysis;European Journal of Neurology;2024-08-17

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