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

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.

Journal of neurogenetics - 1 Jan 2015

Ishiura Hiroyuki, Tsuji Shoji

Abstract excerpt

GGGGCC hexanucleotide repeat expansions in C9orf72 were identified in 2011 as the genetic cause of frontotemporal lobar degeneration (FTLD)/amyotrophic lateral sclerosis (ALS) linked to chromosome 9. Since then, a number of studies have been conducted to delineate the molecular epidemiology of the repeat expansions and the molecular pathophysiology of the disease. The frequency of the repeat expansions...

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 C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frontotemporal Lobar Degeneration

Share to Mutation

Share to Prevalence

Share to Proteins

Source

Identifiers

PMID: 26540641
DOI: 10.3109/01677063.2015.1085980

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.PMID 26540641Read ↗

The Genetics of C9orf72 Expansions.Semantic proximity Read ↗

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Semantic proximity Read ↗

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansionsSemantic proximity Read ↗

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Semantic proximity Read ↗

The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.Semantic proximity Read ↗

C9orf72; abnormal RNA expression is the key.Semantic proximity Read ↗

C9ORF72 mutations in neurodegenerative diseases.Semantic proximity Read ↗

Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy.Semantic proximity Read ↗

Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesisSemantic proximity Read ↗

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.Semantic proximity Read ↗

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Semantic proximity Read ↗

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