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

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

American journal of medical genetics. Part A - 15 Oct 2006

Morava Eva, Hamel Ben, Hol Frans, Rodenburg Richard, Smeitink Jan

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 Abnormalities, Multiple
Share to Bone and Bones
Share to Mitochondrial Diseases
Share to NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Netherlands

Share to Pedigree

Share to Radiography

Share to Syndrome

Source

Identifiers

PMID: 16969869
DOI: 10.1002/ajmg.a.31452

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.PMID 16969869Read ↗

Mutations of the mitochondrial ND1 gene as a cause of MELAS.Semantic proximity Read ↗

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.Semantic proximity Read ↗

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.Semantic proximity Read ↗

The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum DisorderSemantic proximity Read ↗

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.Semantic proximity Read ↗

[Complex I deficiency due to NDUFS8 gene mutation].Semantic proximity Read ↗

OPA1 in multiple mitochondrial DNA deletion disorders.Semantic proximity Read ↗

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.Semantic proximity Read ↗

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.Semantic proximity Read ↗

A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.Semantic proximity Read ↗

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.Semantic proximity Read ↗

PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complexSemantic proximity Read ↗

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