(Q77136103)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

review article

1 reference

title

Mitochondria in neuromuscular disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

S DiMauro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

E Bonilla

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

M Davidson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

M Hirano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

E A Schon

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

language of work or name

English

0 references

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

3 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

1366

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

199-210

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

3 December 2019

cites work

1 reference

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

7 January 2021

1 reference

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

7 January 2021

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Genetic heterogeneity in Leigh syndrome.

7 January 2021

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Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

7 January 2021

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Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

7 January 2021

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Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

7 January 2021

1 reference

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Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

7 January 2021

1 reference

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A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

7 January 2021

1 reference

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Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant

7 January 2021

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Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment

7 January 2021

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Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

7 January 2021

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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

7 January 2021

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

7 January 2021

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Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

7 January 2021

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d-Cycloserine enhances implicit memory in Alzheimer patients.

7 January 2021

1 reference

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Mitochondrial carrier proteins

7 January 2021

1 reference

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Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

7 January 2021

1 reference

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A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

7 January 2021

1 reference

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Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy

7 January 2021

1 reference

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Protein sorting in mitochondria

7 January 2021

1 reference

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Mitochondrial protein transport--a system in search of mutations

7 January 2021

1 reference

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Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia

7 January 2021

1 reference

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A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

7 January 2021

1 reference

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Clinical manifestations of mitochondrial DNA depletion

7 January 2021

1 reference

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Mitochondrial myopathy caused by long-term zidovudine therapy

7 January 2021

1 reference

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Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

7 January 2021

1 reference

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Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients

7 January 2021

1 reference

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Molecular mechanisms in mitochondrial DNA depletion syndrome

7 January 2021

1 reference

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Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion

7 January 2021

1 reference

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

7 January 2021

1 reference

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

7 January 2021

1 reference

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

7 January 2021

1 reference

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An autosomal locus predisposing to deletions of mitochondrial DNA

7 January 2021

1 reference

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The fate of human sperm-derived mtDNA in somatic cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Mitochondrial DNA mutations and pathogenesis

7 January 2021

1 reference

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Rearranged mitochondrial genomes are present in human oocytes

7 January 2021

1 reference

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

7 January 2021

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Mitochondrial diabetes revisited

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

7 January 2021

1 reference

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Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

7 January 2021

1 reference

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Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations

7 January 2021

1 reference

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

7 January 2021

1 reference

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

7 January 2021

1 reference

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Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

7 January 2021

1 reference

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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

7 January 2021

1 reference

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Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Aging, energy, and oxidative stress in neurodegenerative diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Ultrastructural alterations in encephalomyopathies of mitochondrial origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

[Cl-]i-dependent phosphorylation of the Na-K-Cl cotransport protein of dog tracheal epithelial cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

The release of cytochrome c from mitochondria: a primary site for Bcl-2 regulation of apoptosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

Distinction of apoptotic and necrotic cell death by in situ labelling of fragmented DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900113-3

10.1016/S0005-2728(98)00113-3

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9714805%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference