(Q40697799)

22 September 2017

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title

Mitochondrial DNA diseases: histological and cellular studies (English)

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22 September 2017

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E A Shoubridge

1

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22 September 2017

publication date

1 June 1994

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Journal of Bioenergetics and Biomembranes

22 September 2017

published in

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22 September 2017

volume

26

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22 September 2017

issue

3

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22 September 2017

page(s)

301-310

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

22 September 2017

cites work

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12 December 2020

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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12 December 2020

Regulation of nuclear and mitochondrial gene expression by contractile activity in skeletal muscle

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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12 December 2020

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

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12 December 2020

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

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12 December 2020

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

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12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

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12 December 2020

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

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12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

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12 December 2020

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

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12 December 2020

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

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12 December 2020

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

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12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

12 December 2020

Mitochondria and ageing

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12 December 2020

Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation

1 reference

12 December 2020

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

1 reference

12 December 2020

Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)

1 reference

12 December 2020

Mitochondrial genome distribution in histochemically cytochrome c oxidase-negative muscle fibres in patients with a mixture of deleted and wild type mitochondrial DNA

1 reference

12 December 2020

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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12 December 2020

A mitochondrial tRNA anticodon swap associated with a muscle disease

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12 December 2020

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

12 December 2020

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

1 reference

12 December 2020

MELAS: clinical features, biochemistry, and molecular genetics

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12 December 2020

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

12 December 2020

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

1 reference

12 December 2020

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

12 December 2020

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

12 December 2020

"All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study

1 reference

12 December 2020

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

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12 December 2020

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

12 December 2020

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

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12 December 2020

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

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12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

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12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

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12 December 2020

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

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12 December 2020

Identifiers

DOI

10.1007/BF00763101

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22 September 2017

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