[HTML][HTML] Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
D Gagliardi, P Ripellino, M Meneri, R Del Bo… - Frontiers in …, 2023 - frontiersin.org
Introduction SOD1 was the first gene associated with both familial and sporadic forms of
amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS …
amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS …
Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: Insight from two population-based registries
I Martinelli, A Ghezzi, E Zucchi, G Gianferrari, L Ferri… - Journal of …, 2023 - Springer
Background Uncovering distinct features and trajectories of amyotrophic lateral sclerosis
(ALS) associated with SOD1 mutations (SOD1-ALS) can provide valuable insights for …
(ALS) associated with SOD1 mutations (SOD1-ALS) can provide valuable insights for …
[HTML][HTML] SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
P Ruffo, B Perrone, FL Conforti - Genes, 2022 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease
whose causes are unclear. The first ALS gene associated with the autosomal dominant form …
whose causes are unclear. The first ALS gene associated with the autosomal dominant form …
[HTML][HTML] Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history
L Tang, Y Ma, X Liu, L Chen, D Fan - Translational neurodegeneration, 2019 - Springer
Background SOD1 mutations are the most common cause of amyotrophic lateral sclerosis
(ALS) in non-Caucasian patients. Detailed natural history profiles of SOD1-mutant patients …
(ALS) in non-Caucasian patients. Detailed natural history profiles of SOD1-mutant patients …
[HTML][HTML] SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China
LX Chen, HF Xu, PS Wang, XX Yang, ZY Wu… - Frontiers in …, 2021 - frontiersin.org
Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high
penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A …
penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A …
SOD1 mutations in amyotrophic lateral sclerosis: results from a multicenter Italian study
S Battistini, F Giannini, G Greco, G Bibbò, L Ferrera… - Journal of …, 2005 - Springer
Abstract Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron
diseases, is characterized by a progressive neurodegenerative process involving motor …
diseases, is characterized by a progressive neurodegenerative process involving motor …
A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression
D Keckarević, Z Stević… - Amyotrophic Lateral …, 2012 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown
origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in …
origin in most cases. Here we report a novel P66S mutation in exon 3 of the SOD1 gene in …
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis
T Domi, P Schito, G Sferruzza, T Russo, L Pozzi… - Journal of …, 2024 - Springer
Background and objectives Amyotrophic lateral sclerosis associated with mutations in SOD1
(SOD1-ALS) might be susceptible to specific treatment. The aim of the study is to outline the …
(SOD1-ALS) might be susceptible to specific treatment. The aim of the study is to outline the …
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
F Muratet, E Teyssou, A Chiot, S Boillée… - Journal of Neurology …, 2021 - jnnp.bmj.com
Objective Mutations in superoxide dismutase 1 gene (SOD1), encoding copper/zinc
superoxide dismutase protein, are the second most frequent high penetrant genetic cause …
superoxide dismutase protein, are the second most frequent high penetrant genetic cause …
[HTML][HTML] Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing
J Wu, E Shen, D Shi, ZS Sun, T Cai - Genetics in medicine, 2012 - Elsevier
Purpose Familial amyotrophic lateral sclerosis has been linked to mutations in 15 genes,
and it is believed these genes account for less than 20–30% of Chinese patients with …
and it is believed these genes account for less than 20–30% of Chinese patients with …