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

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

Neurogenetics - 1 Feb 2013

Lal Dennis, Becker Kerstin, Motameny Susanne, Altmüller Janine, Thiele Holger, Nürnberg Peter, Ahting Uwe, Rolinski Boris, Neubauer Bernd A, Hahn Andreas

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 Child
Share to Child, Preschool
Share to Electron Transport Complex I
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to NADH Dehydrogenase

Share to Pedigree

Share to Siblings

Source

Identifiers

PMID: 23334465
DOI: 10.1007/s10048-013-0355-z

Genes

NDUFV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.PMID 23334465Read ↗

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.Semantic proximity Read ↗

Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families.Semantic proximity Read ↗

Familial infantile bilateral striatal necrosisSemantic proximity Read ↗

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.Semantic proximity Read ↗

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.Semantic proximity Read ↗

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.Semantic proximity Read ↗

[Analysis of DNM1L gene variant in a case of fatal encephalopathy caused by mitochondrial peroxidase division deficiency].Semantic proximity Read ↗

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.Semantic proximity Read ↗

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.Semantic proximity Read ↗

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.Semantic proximity Read ↗

Type I glutaric aciduria, part 1: natural history of 77 patients.Semantic proximity Read ↗

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.Semantic proximity Read ↗

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