(Q28141431)

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11 December 2019

review article

1 reference

title

Mitochondrial DNA and disease (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10437851%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

0 references

1 reference

1

P F Chinnery

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11 December 2019

author name string

D M Turnbull

series ordinal

2

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11 December 2019

language of work or name

English

0 references

publication date

1 July 1999

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11 December 2019

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11 December 2019

volume

354 Suppl 1

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11 December 2019

page(s)

SI17-21

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Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

11 December 2019

cites work

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

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Nuclear power and mitochondrial disease

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Mitochondrial diseases in man and mouse

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Sequence and organization of the human mitochondrial genome

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Molecular genetic aspects of human mitochondrial disorders

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Human mitochondrial diseases: answering questions and questioning answers

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Maternal inheritance and the evaluation of oxidative phosphorylation diseases

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7 January 2021

Mitochondrial DNA mutations and pathogenesis

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7 January 2021

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

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7 January 2021

Genetic counseling and prenatal diagnosis for mtDNA disease

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7 January 2021

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

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7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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7 January 2021

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

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7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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7 January 2021

Mitochondrial genotype and clinical phenotype

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7 January 2021

Maternally inherited diabetes and deafness: a new diabetes subtype

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7 January 2021

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

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7 January 2021

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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7 January 2021

Recurrent strokes in a 34-year-old man

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7 January 2021

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

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7 January 2021

Treatment of mitochondrial disease

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7 January 2021

Gene shifting: a novel therapy for mitochondrial myopathy.

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7 January 2021

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy

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7 January 2021

Reversal of a mitochondrial DNA defect in human skeletal muscle.

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7 January 2021

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

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7 January 2021

Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases

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7 January 2021

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

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7 January 2021

10.1016/S0140-6736(99)90244-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10437851%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference