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 de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2020

Chen Li, Li Junmin, Lu Hong, Liu Yanru

Abstract excerpt

Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe form of ALS. The development of sequencing methods has resulted in increased reports of JALS cases in recent years, this study, we identified a novel heterozygous mutation in exon 14, c.1509dupA:p.R503fs, of the RNA-binding protein fused in sarcoma (FUS) in a 17-year-old female patient with sporadic JALS who experienced rapid progression of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Respiratory Insufficiency

Share to RNA-Binding Protein FUS

Source

Identifiers

PMID: 32501131
DOI: 10.1080/21678421.2020.1775256

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.PMID 32501131Read ↗

A rare case of juvenile amyotrophic lateral sclerosis.Semantic proximity Read ↗

A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy.Semantic proximity Read ↗

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilitySemantic proximity Read ↗

A novel heterozygous variant of FUS gene associated with juvenile ALS and premature tremor onset: a case report.Semantic proximity Read ↗

FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS.Semantic proximity Read ↗

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.Semantic proximity Read ↗

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.Semantic proximity Read ↗

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Semantic proximity Read ↗

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.Semantic proximity Read ↗

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.Semantic proximity Read ↗

Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

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