SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients-Reference-Cited by-同舟云学术

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients

Published:2016-09-27 Issue:11 Volume:31 Page:1754-1756
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Gama Maria Thereza Drumond¹,Houle Gabrielle²³,Noreau Anne²,Dionne-Laporte Alexandre²,Dion Patrick A.²,Rouleau Guy A.²,Barsottini Orlando G.P.¹,Pedroso José Luiz¹

Affiliation:

1. Division of General Neurology and Ataxia Unit, Department of Neurology; Federal University of São Paulo (UNIFESP); São Paulo Brazil

2. Montreal Neurological Institute, Department of Neurology and Neurosurgery; Montréal Québec Canada

3. Department of Human Genetics; McGill University; Montréal Québec Canada

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference8 articles.

1. The autosomal recessive cerebellar ataxias;Anheim;N Engl J Med,2012

2. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed;Pedroso;Arq Neuropsiquiatr,2013

3. Delayed-onset Friedreich's ataxia revisited;Lecocq;Mov Disord,2016

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

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

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1. Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family;Frontiers in Genetics;2022-02-23

2. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias;Translational Neurodegeneration;2021-10-18

3. Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient;The Cerebellum;2021-03-02

4. Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study;BMC Neuroscience;2021-02-01

5. Syncrip/hnRNP Q is required for activity-induced Msp300/Nesprin-1 expression and new synapse formation;Journal of Cell Biology;2020-02-10