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

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

15 Jun 2023

Abstract excerpt

Abstract Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA- FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a technology that is not yet widely available in clinical laboratories. We developed and validated a strategy to detect FGF14 GAA repeat expansions using...

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 Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37322040
DOI: 10.1038/s41598-023-36654-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BPMID 37322040Read ↗

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.Semantic proximity Read ↗

Unveiling pathogenic and non-pathogenic FGF14 repeat expansions: identification, sequence, and secondary structureSemantic proximity Read ↗

Advancing molecular, phenotypic and mechanistic insights of<i>FGF14</i>pathogenic expansions (SCA27B)Semantic proximity Read ↗

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.Semantic proximity Read ↗

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.Semantic proximity Read ↗

<i>FGF14</i>repeat length and mosaic interruptions: modifiers of SCA27B?Semantic proximity Read ↗

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.Semantic proximity Read ↗

Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary DiseasesSemantic proximity Read ↗

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cellsSemantic proximity Read ↗

Genetic testing for<i>SCA27B</i>in Korean Multiple System AtrophySemantic proximity Read ↗

High Prevalence of the Intronic GAA- FGF14 Repeat Expansion in Dutch Patients With Late-Onset AtaxiaSemantic proximity Read ↗

Cas9-enriched nanopore sequencing enables comprehensive and multiplexed detection of repeat expansionsSemantic proximity Read ↗

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