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

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Annals of neurology - 1 Jan 2015

Penttilä Sini, Jokela Manu, Bouquin Heidi, Saukkonen Anna Maija, Toivanen Jari, Udd Bjarne

Abstract excerpt

OBJECTIVE: A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2. METHODS: The previous genetic linkage approach by microsatellite haplotyping was continued in new families. A whole genome sequencing was performed to find all possibly...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Family Health
Share to Finland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Linkage

Share to Mitochondrial Proteins

Share to Muscular Atrophy, Spinal

Share to Young Adult

Source

Identifiers

PMID: 25428574
DOI: 10.1002/ana.24319

Genes

CHCHD10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.PMID 25428574Read ↗

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.Semantic proximity Read ↗

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosisSemantic proximity Read ↗

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.Semantic proximity Read ↗

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Semantic proximity Read ↗

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.Semantic proximity Read ↗

Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.Semantic proximity Read ↗

CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.Semantic proximity Read ↗

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.Semantic proximity Read ↗

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.Semantic proximity Read ↗

Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L familySemantic proximity Read ↗

Mutation analysis of<i>CHCHD10</i>in different neurodegenerative diseasesSemantic proximity Read ↗

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