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

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation.

Journal of neurology - 1 Jun 2012

Yamashita Satoshi, Mori Akira, Sakaguchi Hideya, Suga Tomohiro, Ishihara Daijirou, Ueda Akihiko, Yamashita Taro, Maeda Yasushi, Uchino Makoto, Hirano Teruyuki

Abstract excerpt

We present two cases of patients with juvenile amyotrophic lateral sclerosis (ALS), who had no history of familial ALS. The symptoms of both patients started as weakness of the unilateral upper limb and neck, and extended to bulbar and respiratory weakness in a relatively short period. Of note, t...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Age Factors
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FUS gene

Share to Intellectual Disability

Share to Mutation

Share to RNA-Binding Protein FUS

Share to Young Adult

Source

Identifiers

PMID: 22057404
DOI: 10.1007/s00415-011-6292-6

Genes

FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22057404-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation.PMID 22057404Read ↗

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.Semantic proximity Read ↗

[Amyotrophic lateral sclerosis (ALS) with the mutations in the fused in sarcoma/translocated in liposarcoma gene].Semantic proximity Read ↗

Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive ImpairmentSemantic proximity Read ↗

[Clinical genetics of amyotrophic lateral sclerosis in Japan: an update].Semantic proximity Read ↗

FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.Semantic proximity Read ↗

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

Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.Semantic proximity Read ↗

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

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.Semantic proximity Read ↗

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 ↗

Functions of FUS/TLS From DNA Repair to Stress Response: Implications for ALSSemantic proximity Read ↗

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