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

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2016

Charlesworth Gavin, Balint Bettina, Mencacci Niccolò E, Carr Lucinda, Wood Nicholas W, Bhatia Kailash P

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 Brain
Share to Consanguinity
Share to Magnetic Resonance Imaging
Share to Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Optic Atrophy

Share to Optic Nerve Diseases

Share to Phosphate Transport Proteins

Share to Siblings

Source

Identifiers

PMID: 27430653
DOI: 10.1002/mds.26716

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

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.PMID 27430653Read ↗

A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.Semantic proximity Read ↗

Novel insights into SLC25A46-related pathologies in a genetic mouse model.Semantic proximity Read ↗

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.Semantic proximity Read ↗

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.Semantic proximity Read ↗

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Semantic proximity Read ↗

Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders.Semantic proximity Read ↗

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Semantic proximity Read ↗

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.Semantic proximity Read ↗

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.Semantic proximity Read ↗

SLC52A2 mutations cause SCABD2 phenotype: A second report.Semantic proximity Read ↗

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.Semantic proximity Read ↗

Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathiesSemantic proximity Read ↗

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