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

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Neurobiology of aging - 1 May 2014

Teyssou Elisa, Vandenberghe Nadia, Moigneu Carine, Boillée Séverine, Couratier Philippe, Meininger Vincent, Pradat Pierre-François, Salachas François, Leguern Eric, Millecamps Stéphanie

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease including about 15% of genetically determined forms. A de novo mutation in the SS18L1 (also known as CREST or KIAA0693) gene encoding the calcium-responsive transactivator and/or neuronal chromatin remodeling complex subunit has recently been identified by exome sequencing of 47 sporadic ALS trios. This Q388stop mutation deleting the last 9...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Chickens

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dendrites

Share to France

Share to Macaca mulatta

Share to Membrane Transport Proteins

Share to Trans-Activators

Share to Transcription Factor TFIIIA

Source

Identifiers

PMID: 24360741
DOI: 10.1016/j.neurobiolaging.2013.11.023

Genes

OPTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.PMID 24360741Read ↗

Exome sequencing to identify de novo mutations in sporadic ALS trios.Semantic proximity Read ↗

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.Semantic proximity Read ↗

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.Semantic proximity Read ↗

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onsetSemantic proximity Read ↗

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.Semantic proximity Read ↗

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.Semantic proximity Read ↗

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.Semantic proximity Read ↗

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.Semantic proximity Read ↗

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.Semantic proximity Read ↗

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