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

Long-read targeted sequencing uncovers clinicopathological associations forC9orf72-linked diseases

15 Jan 2021

Abstract excerpt

To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp sequencing. In our cross-sectional study, we assessed cerebellar tissue from 28 well-characterized C9orf72 expansion carriers. We obtained 3507 on-target...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Genomics and Rare Diseases
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33889947
DOI: 10.1093/brain/awab006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-read targeted sequencing uncovers clinicopathological associations forC9orf72-linked diseasesPMID 33889947Read ↗

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read ↗

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.Semantic proximity Read ↗

Long-read sequencing across the <i>C9orf72</i> ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseSemantic proximity Read ↗

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative diseaseSemantic proximity Read ↗

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

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnosticsSemantic proximity Read ↗

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

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions.Semantic proximity Read ↗

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansionSemantic proximity Read ↗

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read ↗

Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansionSemantic proximity Read ↗

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.Semantic proximity Read ↗

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