(Q37070280)

18 August 2017

1 reference

title

Neurological disorders due to mutations of the mitochondrial genome (English)

1 reference

18 August 2017

1 reference

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

2 December 2022

1

M. Zeviani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822790

2 December 2022

author name string

S. DiDonato

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822790

2 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1822790

2 December 2022

publication date

1 January 1991

1 reference

full work available at URL

18 August 2017

https://api.elsevier.com/content/article/PII:096089669190020S?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

https://api.elsevier.com/content/article/PII:096089669190020S?httpAccept=text/plain

2 December 2022

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

2 December 2022

published in

Neuromuscular Disorders

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18 August 2017

volume

1

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18 August 2017

issue

3

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18 August 2017

page(s)

165-172

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

18 August 2017

cites work

1 reference

24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.2814477

Report of the committee on human mitochondrial DNA.

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1 reference

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The triumph of linkage analysis

2 December 2022

3

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

2 December 2022

4

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

2 December 2022

5

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

The mitochondrial genome--breaking the magic circle

2 December 2022

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1 reference

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Small, beautiful and essential

2 December 2022

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1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Mitochondrial DNA in sickness and in health

2 December 2022

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1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

2 December 2022

The other human genome

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1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

2 December 2022

10

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Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

2 December 2022

11

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

2 December 2022

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https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

2 December 2022

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Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

2 December 2022

15

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

16

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Identification of point mutations by mispairing PCR as exemplified in MERRF disease

2 December 2022

18

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

19

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy

2 December 2022

20

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Mitochondrial mutation in fatal infantile cardiomyopathy

2 December 2022

21

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KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

2 December 2022

22

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

MTTOCHONDRIAL DNA DELETION IN ENCEPHALOMYOPATHY

2 December 2022

24

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Duplications of mitochondrial DNA in mitochondrial myopathy

2 December 2022

26

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

27

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

2 December 2022

28

1 reference

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Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions

2 December 2022

29

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

30

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

2 December 2022

31

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

33

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

2 December 2022

34

1 reference

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Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method

2 December 2022

35

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

2 December 2022

36

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

2 December 2022

37

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Directly repeated sequences associated with pathogenic mitochondrial DNA deletions

2 December 2022

38

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

41

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

43

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

2 December 2022

44

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

2 December 2022

45

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

2 December 2022

46

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV

2 December 2022

47

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

50

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Mitochondrial complex I deficiency in Parkinson's disease

2 December 2022

51

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Mitochondrial DNA analysis in Parkinson's disease

2 December 2022

52

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Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease

2 December 2022

53

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https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

2 December 2022

54

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

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

2 December 2022

55

1 reference

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DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

2 December 2022

56

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

Reduced transcription of mitochondrial DNA in the senescent rat. Tissue dependence and effect of L-carnitine

2 December 2022

57

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90020-S

2 December 2022

Identifiers

1 reference

18 August 2017

1 reference