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

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

23 Mar 2019

Abstract excerpt

C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has become increasingly available since hexanucleotide repeat expansions were first reported in 2011. The repeat number is highly variable and the threshold at which repeat size...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Genetic Neurodegenerative Diseases
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30907153
DOI: 10.1080/21678421.2019.1588904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counselingPMID 30907153Read ↗

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionSemantic proximity Read ↗

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

C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?Semantic proximity Read ↗

Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic StrategiesSemantic proximity Read ↗

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

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.Semantic proximity Read ↗

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.Semantic proximity Read ↗

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

The Genetics of C9orf72 Expansions.Semantic proximity Read ↗

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.Semantic proximity Read ↗

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeuticsSemantic proximity Read ↗

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