SYNE1-ataxia: clinicopathologic features of an autopsied patient with novel compound heterozygous mutations-Reference-Cited by-同舟云学术

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SYNE1-ataxia: clinicopathologic features of an autopsied patient with novel compound heterozygous mutations

Published:2022-12-16 Issue:3 Volume:82 Page:267-271
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:

Author:

Saito Rie,Hara Norikazu,Tada Mari,Wakabayashi Masatoshi,Miyashita Akinori,Nishizawa Masatoyo,Onodera Osamu,Ikeuchi Takeshi,Kakita Akiyoshi

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Link

https://academic.oup.com/jnen/article-pdf/82/3/267/49283733/nlac120.pdf

Reference11 articles.

1. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia;Gros-Louis;Nat Genet,2007

2. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study;Synofzik;Brain,2016

3. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1;Dupré;Ann Neurol,2007

4. SYNE1 mutations in autosomal recessive cerebellar ataxia;Noreau;JAMA Neurol,2013

5. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease;Izumi;Neurology,2013

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