(Q77763603)

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8 December 2019

title

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain (English)

1 reference

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8 December 2019

8

1 reference

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8 December 2019

author name string

J C Rubio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879690%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

M A Martín

2

1 reference

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8 December 2019

J Bautista

3

1 reference

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8 December 2019

Y Campos

4

1 reference

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8 December 2019

D Segura

5

1 reference

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8 December 2019

A Cabello

6

1 reference

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8 December 2019

I Chinchón

7

1 reference

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8 December 2019

publication date

1 December 1998

1 reference

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Journal of the Neurological Sciences

8 December 2019

number of pages

4

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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8 December 2019

volume

161

1 reference

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8 December 2019

issue

2

1 reference

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8 December 2019

page(s)

110-113

1 reference

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Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

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%2898%2900263-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Myophosphorylase deficiency: an unusually severe form with myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

A mitochondrial tRNA anticodon swap associated with a muscle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Sequences of 20 subunits of NADH: Ubiquinone oxidoreductase from bovine heart mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900263-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-510X(98)00263-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9879690%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference