DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS

WJ Broom, DV Johnson, M Garber, PM Andersen… - Neuroscience …, 2009 - Elsevier
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases; 12–23% are
associated with mutations in the Cu/Zn superoxide dismutase gene (SOD1). All ALS-linked …

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes

WJ Broom, C Russ, PC Sapp, D McKenna-Yasek… - Neuroscience …, 2006 - Elsevier
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases;
approximately 25% are due to mutations in the Cu/Zn superoxide dismutase gene (SOD1) …

SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia

WJ Broom, DV Johnson, KE Auwarter, AJ Iafrate… - Neuroscience …, 2008 - Elsevier
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS. Approximately 20%
of cases are due to mutations in the Cu/Zn superoxide dismutase gene (SOD1). In North …

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS

T Segovia-Silvestre, AL Andreu… - … Lateral Sclerosis and …, 2002 - Taylor & Francis
INTRODUCTION: Details of the mutations in the Cu/Zn superoxide dismutase (SOD1) gene
in patients with the familial form of amyotrophic lateral sclerosis are currently being gathered …

Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)

RW Orrell, SL Marklund, JS DeBelleroche - Journal of the neurological …, 1997 - Elsevier
Mutations of the SOD1 gene, which encodes the enzyme copper/zinc superoxide dismutase,
are associated with familial amyotrophic lateral sclerosis (ALS). SOD1 consists of five exons …

Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree

Z Wang, W Cai, F Cui, T Cai, Z Chen, F Mao… - Neurobiology of …, 2014 - Elsevier
Abstract Mutations of Cu-Zn superoxide dismutase (SOD1) have rarely been identified in
Chinese patients with amyotrophic lateral sclerosis (ALS). We recently initiated a program to …

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

S Penco, C Lunetta, L Mosca, E Maestri… - Journal of Molecular …, 2011 - Springer
We report different clinical expression in seven members of a large family with amyotrophic
lateral sclerosis (ALS) and the G93D mutation in exon 4 of the Cu/Zn superoxide dismutase …

A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS

PN Valdmanis, VV Belzil, J Lee, PA Dion… - Annals of human …, 2009 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disease which
targets motor neurons of the cortex, brainstem and spinal cord. About 5–10% of all …

[HTML][HTML] Rapid progression of sporadic als in a patient carrying sod1 p. Gly13arg mutation

MJ Kim, JH Bae, JM Kim, HR Kim, BN Yoon… - Experimental …, 2016 - ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is
pathologically characterized by progressive loss of the upper and lower motor neurons …

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

E Bernard, A Pegat, J Svahn, F Bouhour… - International Journal of …, 2020 - mdpi.com
Mutations in the copper zinc superoxide dismutase 1 (SOD1) gene are the second most
frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this …