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

Relationship between C9orf72 repeat size and clinical phenotype.

Current opinion in genetics & development - 1 Jun 2017

Van Mossevelde Sara, van der Zee Julie, Cruts Marc, Van Broeckhoven Christine

Abstract excerpt

Patient carriers of a C9orf72 repeat expansion exhibit remarkable heterogeneous clinical and pathological characteristics suggesting the presence of modifying factors. In accordance with other repeat expansion diseases, repeat length is the prime candidate as a genetic modifier. Observations of earlier onset ages in younger generations of large families suggested a mechanism of disease anticipation. Yet, studies...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

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

Share to DNA Repeat Expansion

Share to Frontotemporal Dementia

Share to Mosaicism

Share to Nerve Degeneration

Share to Repetitive Sequences, Amino Acid

Source

Identifiers

PMID: 28319737
DOI: 10.1016/j.gde.2017.02.008

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

Relationship between C9orf72 repeat size and clinical phenotype.PMID 28319737Read ↗

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Semantic proximity Read ↗

The Genetics of C9orf72 Expansions.Semantic proximity Read ↗

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.Semantic proximity Read ↗

Genetic modifiers of repeat expansion disorders.Semantic proximity Read ↗

High Frequency of Repeat Expansions in UK Biobank Suggests Protective Rare Variants Modulate C9ORF72 Penetrance in NeurodegenerationSemantic proximity Read ↗

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Semantic proximity Read ↗

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Semantic proximity Read ↗

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

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriersSemantic proximity Read ↗

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

Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseSemantic proximity Read ↗

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.Semantic proximity Read ↗

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