Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Published:1996-10 Issue:5 Volume:6 Page:361-366
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hosler Betsy A.,Nicholson Garth A.,Sapp Peter C.,Chin Wendy,Orrell Richard W.,De Belleroche Jackie S.,Esteban Jesus,Hayward Lawrence J.,McKenna-Yasek Diane,Yeung Leone,Cherryson Annia K.,Dench Joanne E.,Wilton Steve D.,Laing Nigel G.,Horvitz H.Robert,Brown Robert H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference37 articles.

1. Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology and ethical issues in management;Tandan;Ann Neurol,1985

2. Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis;Tandan;Ann Neurol,1985

3. Familial adult motor neuron disease: amyotrophic lateral sclerosis;Mulder;Neurology,1986

4. Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers;Rosen;Am J Med Genet,1994

5. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity;Siddique;N Engl J Med,1991

Cited by 45 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. Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype;Frontiers in Neurology;2023-01-04

2. Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum;Journal of Neurology;2021-03-26

3. SOD1-related ALS with anticipation in a large family from Martinique;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2021-03-23

4. A 54-Year-Old Man with Progressive Lower Limb Weakness and CK Elevation;A Case-Based Guide to Neuromuscular Pathology;2019-10-25

5. A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms;Neurobiology of Aging;2018-12