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

页码：6087 / 6090

页数：3

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