(Q35085834)

6 August 2017

1 reference

title

Mitochondrial encephalomyopathies (English)

1 reference

6 August 2017

Anders Oldfors

1

1 reference

PubMed ID

12638726

6 August 2017

Már Tulinius

series ordinal

2

1 reference

6 August 2017

1 March 2003

1 reference

Journal of Neuropathology & Experimental Neurology

6 August 2017

1 reference

6 August 2017

62

1 reference

6 August 2017

3

1 reference

6 August 2017

217-227

1 reference

Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits.

6 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Paternal inheritance of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Cytopathies involving mitochondrial complex II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Zidovudine-induced mitochondrial disorder with massive liver steatosis, myopathy, lactic acidosis, and mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Inclusion body myositis: genetic factors, aberrant protein expression, and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Neuropathology in Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Neuropathy associated with mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Increased mitochondrial mass in mitochondrial myopathy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mitochondria, oxygen free radicals, disease and ageing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Generation of reactive oxygen species by the mitochondrial electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Lack of apoptosis in mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Production of mitochondrial DNA transgenic mice using zygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Manipulation of mitochondrial DNA gene expression in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mitochondrial disease in superoxide dismutase 2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

The role of uncoupling proteins in pathophysiological states

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.3.217

21 January 2018

Identifiers

DOI

10.1093/JNEN/62.3.217

1 reference

6 August 2017

1 reference

PubMed ID

12638726