Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family-Reference-Cited by-同舟云学术

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Published:2011-08-30 Issue:1 Volume:13 Page:132-136
ISSN:1748-2968
Container-title:Amyotrophic Lateral Sclerosis
language:en
Short-container-title:Amyotrophic Lateral Sclerosis

Author:

Berdyński Mariusz,Kuźma-Kozakiewicz Magdalena,Ricci Claudia,Kubiszewska Justyna,Millecamps Stéphanie,Salachas François,Łusakowska Anna,Carrera Paola,Meininger Vincent,Battistini Stefania,Kwieciński Hubert,Żekanowski Cezary

Publisher

Informa UK Limited

Subject

Clinical Neurology,Neurology,General Medicine

Link

http://www.tandfonline.com/doi/pdf/10.3109/17482968.2011.600316

Reference22 articles.

1. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

2. Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives

3. SOD1 missense mutation in an Italian family with ALS

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Amyotrophic lateral sclerosis: translating genetic discoveries into therapies;Nature Reviews Genetics;2023-04-06

2. SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity;Scientific Reports;2022-01-07

3. A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation;Genes;2021-09-29

4. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2020-08-10

5. Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2013-07-30