(Q74180066)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12031622%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12031622%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

Guillemette Fayet

1

1 reference

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9 November 2019

Monica Jansson

2

1 reference

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9 November 2019

Ali Reza Moslemi

4

1 reference

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9 November 2019

Patricia Blondy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12031622%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Anne Lombès

6

1 reference

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9 November 2019

Anders Oldfors

8

1 reference

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9 November 2019

publication date

1 June 2002

1 reference

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9 November 2019

published in

Neuromuscular Disorders

1 reference

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9 November 2019

volume

12

1 reference

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9 November 2019

issue

5

1 reference

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9 November 2019

page(s)

484-493

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12031622%20AND%20SRC:MED&resulttype=core&format=json

Mitochondria in neuromuscular disorders

9 November 2019

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Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

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Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease

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Mitochondrial oxidative phosphorylation defects in Parkinson's disease

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Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

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7 January 2021

Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing

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7 January 2021

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

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7 January 2021

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7 January 2021

Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

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7 January 2021

Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans

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7 January 2021

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

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7 January 2021

Multiple mitochondrial DNA deletions in an elderly human individual

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7 January 2021

Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia

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7 January 2021

Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

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7 January 2021

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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7 January 2021

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration

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7 January 2021

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

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7 January 2021

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

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7 January 2021

Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

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7 January 2021

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children

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7 January 2021

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

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7 January 2021

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

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7 January 2021

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

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7 January 2021

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900332-7

7 January 2021

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

1 reference

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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

Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region

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7 January 2021

Detection of a specific mitochondrial DNA deletion in tissues of older humans

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7 January 2021

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

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7 January 2021

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

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7 January 2021

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

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7 January 2021

Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues

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7 January 2021

Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

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7 January 2021

Relaxed replication of mtDNA: A model with implications for the expression of disease

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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

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

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7 January 2021

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

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7 January 2021

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.

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7 January 2021

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12031622%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference