Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.

Genes - 29 Sept 2021

Ricci Claudia, Giannini Fabio, Riolo Giulia, Bocci Silvia, Casali Stefania, Battistini Stefania

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disorder characterized by degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. Most cases of ALS appear sporadically, but 5-10% of patients have a family history of disease. Mutations in the superoxide dismutase 1 gene (SOD1) have been found in 12-23% of familial cases and in 1-2% of sporadic cases. Currently, more than...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Aged, 80 and over
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Phenotype

Share to Protein Conformation

Share to Superoxide Dismutase-1

Source

Open in PubMed Open full text

Identifiers

PMID: 34680939
DOI: 10.3390/genes12101544
PMCID: PMC8535540

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.PMID 34680939Read ↗

Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.Semantic proximity Read ↗

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosisSemantic proximity Read ↗

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.Semantic proximity Read ↗

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature reviewSemantic proximity Read ↗

A patient carrying a heterozygous p.Asn267Ser TARDBP missense mutation diagnosed as ALS and only involving lower motor neurons.Semantic proximity Read ↗

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

The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis.Semantic proximity Read ↗

Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1.Semantic proximity Read ↗

Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1Semantic proximity Read ↗

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.Semantic proximity Read ↗

Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.