(Q36194900)

12 August 2017

1 reference

title

Mitochondrial DNA and disease. (English)

1 reference

12 August 2017

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Guido Davidzon

2

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author name string

Salvatore Dimauro

series ordinal

1

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PubMed ID

16019721

12 August 2017

language of work or name

English

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publication date

1 January 2005

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12 August 2017

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12 August 2017

37

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12 August 2017

222-232

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12 August 2017

3

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Mitochondrial respiratory-chain diseases

12 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Pathogenesis of primary defects in mitochondrial ATP synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

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/10.1080%2F07853890510007368

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

The epidemiology of mitochondrial disorders--past, present and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

The epidemiology of Leber hereditary optic neuropathy in the North East of England

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

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/10.1080%2F07853890510007368

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Risk of developing a mitochondrial DNA deletion disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Paternal inheritance of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

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/10.1080%2F07853890510007368

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Recombination of human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Identification of the remains of the Romanov family by DNA analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Identification of the skeletal remains of Martin Bormann by mtDNA analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Transmitochondrial mice: proof of principle and promises

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Neuronal degeneration and mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

Medicinal and Genetic Approaches to the Treatment of Mitochondrial Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007368

10.1080/07853890510007368

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

16019721