(Q43794098)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Joaquín Arenas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

J R García-Lozano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

A Muñoz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

Y Campos

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

I Chinchón

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

A N Roldán

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

J Bautista

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

3 December 2019

published in

1 reference

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3 December 2019

volume

192

1 reference

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3 December 2019

issue

1-2

1 reference

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3 December 2019

page(s)

81-84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11701156%20AND%20SRC:MED&resulttype=core&format=json

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

3 December 2019

cites work

1 reference

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Fatal infantile form of muscle phosphorylase deficiency

7 January 2021

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Congenital myopathy due to phosphorylase deficiency

7 January 2021

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Myophosphorylase deficiency impairs muscle oxidative metabolism

7 January 2021

1 reference

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Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

7 January 2021

1 reference

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Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

Mitochondrial genetics and human disease

7 January 2021

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Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

Impairment of muscle mitochondrial oxidative metabolism in McArdle's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2801%2900634-7