(Q74578242)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063833%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063833%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author

Georgios M Hadjigeorgiou

6

object named as

G M Hadjigeorgiou

1 reference

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11 November 2019

author name string

C Bruno

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063833%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

L Tamburino

2

1 reference

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11 November 2019

N Kawashima

3

1 reference

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11 November 2019

A L Andreu

4

1 reference

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11 November 2019

S Shanske

5

1 reference

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11 November 2019

A Kawashima

7

1 reference

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11 November 2019

S DiMauro

8

1 reference

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11 November 2019

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063833%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

published in

Neuromuscular Disorders

1 reference

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11 November 2019

volume

9

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11 November 2019

issue

1

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11 November 2019

page(s)

34-37

1 reference

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Diagnosis of McArdle's disease by molecular genetic analysis of blood

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Molecular genetic analysis of McArdle's disease in Spanish patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Evolution of allosteric control in glycogen phosphorylase

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900096-0

7 January 2021

10.1016/S0960-8966(98)00096-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10063833%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference