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

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2015

Doummar Diane, Mignot Cyril, Apartis Emmanuelle, Villard Laurent, Rodriguez Diana, Chantot-Bastauraud Sandra, Burglen Lydie

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Cerebellar Diseases
Share to Child
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTPase-Activating Proteins

Share to Membrane Proteins

Share to Myoclonus

Share to Nerve Tissue Proteins

Source

Identifiers

PMID: 26207815
DOI: 10.1002/mds.26303

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.PMID 26207815Read ↗

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.Semantic proximity Read ↗

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Semantic proximity Read ↗

Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.Semantic proximity Read ↗

[Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy].Semantic proximity Read ↗

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilitySemantic proximity Read ↗

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.Semantic proximity Read ↗

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.Semantic proximity Read ↗

[Clinical phenotypes of TBC1D24 gene related epilepsy].Semantic proximity Read ↗

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.Semantic proximity Read ↗

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.Semantic proximity Read ↗

TBC1D24 truncating mutation resulting in severe neurodegenerationSemantic proximity Read ↗

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.Semantic proximity Read ↗

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