Article

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in<i>SOD1</i>amyotrophic lateral sclerosis

2023-03-05

Abstract excerpt

<h4>Objective</h4> Variants in the superoxide dismutase ( SOD1 ) gene are among the most common genetic causes of amyotrophic lateral sclerosis. Reflecting the wide spectrum of putatively deleterious variants that have been reported to date, it has become clear that SOD1 -linked ALS presents a highly variable age at symptom onset and disease duration. <h4>Methods</h4> Here we describe an open access web-tool for c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4d4bba3a-c0dc-5a93-9c98-eb7b7eaf52a4
DOI: 10.1101/2023.03.03.23286719

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in<i>SOD1</i>amyotrophic lateral sclerosisDOI 10.1101/2023.03.03.23286719Read

High Prevalence of <i>SOD1</i> Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALSSemantic proximity Read

Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.Semantic proximity Read

Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.Semantic proximity Read

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.Semantic proximity Read

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.Semantic proximity Read

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric studySemantic proximity Read

Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Semantic proximity Read

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP GuidelinesSemantic proximity Read

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.Semantic proximity Read

ALSOD: the Amyotrophic Lateral Sclerosis Online Database.Semantic proximity Read

Clinical characteristics of SOD1 gene mutations in UK families with ALS.Semantic proximity Read

Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?Semantic proximity Read