(Q40394628)

20 September 2017

title

Inheritance of mitochondrial disorders (English)

1 reference

20 September 2017

1

Patrick F Chinnery

1 reference

20 September 2017

publication date

1 November 2002

1 reference

20 September 2017

1 reference

20 September 2017

volume

2

1 reference

20 September 2017

issue

1-2

1 reference

20 September 2017

page(s)

149-155

1 reference

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication

20 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Epidemiology and treatment of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mitochondrial DNA mutations in human disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

A mouse model of mtDNA disease

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Molecular genetic aspects of human mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Clinical spectrum and diagnosis of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

28th ENMC international workshop: mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

A SURF1 gene mutation presenting as isolated leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Respiratory chain complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Mitochondrial diseases in man and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1567-7249%2802%2900046-6

7 January 2021

10.1016/S1567-7249(02)00046-6

Identifiers

DOI

1 reference

20 September 2017

1 reference