Missense mutation in ATXN2 gene (c.2860C > T) in an amyotrophic lateral sclerosis patient with aggressive disease phenotype

被引：0
|
作者：
Andrea Ghezzi
Ilaria Martinelli
Serena Carra
Laura Mediani
Elisabetta Zucchi
Cecilia Simonini
Giulia Gianferrari
Nicola Fini
Cristina Cereda
Cinzia Gellera
Viviana Pensato
Jessica Mandrioli
机构：
[1] University of Modena and Reggio Emilia,Department of Biomedical, Metabolic and Neural Sciences
[2] University of Modena and Reggio Emilia,Clinical and Experimental Medicine PhD Program
[3] Azienda Ospedaliero-Universitaria Di Modena,Department of Neurosciences
[4] Genomic and Post-Genomic Unit IRCCS - Mondino Foundation,Unit of Medical Genetics and Neurogenetics
[5] IRCCS Istituto Neurologico ‘Carlo Besta’, Fondazione
来源：
Neurological Sciences | 2022年 / 43卷
关键词：
Amyotrophic lateral sclerosis; ATXN2; Missense mutation; Disease progression; Stress granules;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：6087 / 6090
页数：3
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