Case series: Downbeat nystagmus in SCA27B-Reference-Cited by-同舟云学术

Case series: Downbeat nystagmus in SCA27B

Published:2023-11 Issue: Volume:454 Page:120849
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Shirai Shinichi,Mizushima Keiichi,Fujiwara Keishi,Koshimizu Eriko,Matsushima Masaaki,Miyatake Satoko,Iwata Ikuko,Yaguchi Hiroaki,Matsumoto Naomichi,Yabe Ichiro

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

School of Medicine, Keio University

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference11 articles.

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2. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected];van Swieten;Am. J. Hum. Genet.,2003

3. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14;Miura;Eur. J. Med. Genet.,2019

4. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14;Rafehi;Am. J. Hum. Genet.,2023

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

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1. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort;Journal of Neurology;2024-06-17

2. Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia;Revue Neurologique;2024-05

3. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort;eBioMedicine;2024-04

4. FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients;Journal of Neurology;2024-03-12

5. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia;Clinical and Translational Medicine;2024-01