SYNE1 gene mutation: A recessive ataxic syndrome presenting with weakness and muscle atrophy. A case report-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

SYNE1 gene mutation: A recessive ataxic syndrome presenting with weakness and muscle atrophy. A case report

Published:2024-06 Issue: Volume:14 Page:100134
ISSN:2666-4593
Container-title:Brain Disorders
language:en
Short-container-title:Brain Disorders

Author:

de Moraes Lucas Grobério Moulim^ORCID,Demoner Caroline Colnago,de Oliveira Giselle Alves,Maia Raphael de Paula Doyle,Dias Paula Zago Melo,Grenfell Mariana Lacerda Reis,Pirola Renann Nunes,Muniz Marcelo Ramos

Publisher

Elsevier BV

Reference4 articles.

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

2. Case report: late-onset autosomal recessive cerebellar ataxia associated with SYNE1 mutation in a Chinese family;Qian;Front. Genet.,2022

3. Autosomal recessive cerebellar ataxias in South America: a multicenter study of 1338 patients;Gama;Mov. Disord.,2022

4. Adult-onset cerebellar ataxias: adult-onset cerebellar ataxias have overlapping phenotypes and diverse causes; tiered testing is a useful diagnostic framework;Pravin;Pract. Neurol.,2022

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP