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

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.

Acta neuropathologica communications - 9 Nov 2020

Kaivola Karri, Salmi Samuli J, Jansson Lilja, Launes Jyrki, Hokkanen Laura, Niemi Anna-Kaisa, Majamaa Kari, Lahti Jari, Eriksson Johan G, Strandberg Timo, Laaksovirta Hannu, Tienari Pentti J

Abstract excerpt

The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. In addition to the effects of the pathogenic expansion, a role of intermediate-length alleles has been suggested in ALS, corticobasal degeneration and Parkinson's disease. Due to the rarity of intermediate-length alleles with over 20 repeats and the geographical variability...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C9orf72 Protein

Share to Case-Control Studies

Share to DNA Repeat Expansion

Share to Finland

Share to Survival Rate

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33168078
DOI: 10.1186/s40478-020-01059-5
PMCID: PMC7654028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.PMID 33168078Read ↗

C9orf72 intermediate expansions of 24–30 repeats are associated with ALSSemantic proximity Read ↗

Intermediate C9orf72 alleles in neurological disorders: does size really matter?Semantic proximity Read ↗

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis.Semantic proximity Read ↗

C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients.Semantic proximity Read ↗

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.Semantic proximity Read ↗

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.Semantic proximity Read ↗

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.Semantic proximity Read ↗

Analysis of C9orf72 Intermediate Alleles in a Retrospective Cohort of Neurological Patients: Risk Factors for Alzheimer's Disease?Semantic proximity Read ↗

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.Semantic proximity Read ↗

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionSemantic proximity Read ↗

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.Semantic proximity Read ↗

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

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