Mitochondrial respiratory chain disorders I: mitochondrial DNA defects (Q33838022)

29 July 2017

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title

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects (English)

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29 July 2017

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A H Schapira

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29 July 2017

J V Leonard

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29 July 2017

language of work or name

English

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publication date

1 January 2000

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29 July 2017

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29 July 2017

volume

355

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29 July 2017

issue

9200

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29 July 2017

page(s)

299-304

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Sequence and organization of the human mitochondrial genome

29 July 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2905225-3

7 January 2021

The mitochondrial genome: structure, transcription, translation and replication

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Bottlenecks and beyond: mitochondrial DNA segregation in health and disease

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7 January 2021

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Late-onset mitochondrial myopathy

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7 January 2021

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis

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7 January 2021

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

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7 January 2021

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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7 January 2021

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

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7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

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7 January 2021

Antibodies to human optic nerve in Leber's hereditary optic neuropathy

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HLA class II genotypes in Leber's hereditary optic neuropathy

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7 January 2021

HLA class I genotypes in Leber's hereditary optic neuropathy

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7 January 2021

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

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7 January 2021

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

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7 January 2021

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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7 January 2021

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

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7 January 2021

The treatment of congenital lactic acidoses

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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

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

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7 January 2021

Treatment of mitochondrial 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

10.1016/S0140-6736(99)05225-3

Identifiers

DOI

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29 July 2017

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