(Q30319854)

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Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 June 2017

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations (English)

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Europe PubMed Central

PubMed publication ID

17 June 2017

Patrick F. Chinnery

5

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Chinnery PF

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

author name string

Deschauer M

1

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Morgenroth A

2

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Joshi PR

3

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Gläser D

4

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Aasly J

6

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Schreiber H

7

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Knape M

8

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Zierz S

9

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Vorgerd M

10

1 reference

Europe PubMed Central

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17 June 2017

publication date

3 April 2007

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Europe PubMed Central

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17 June 2017

Journal of Neurology

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Europe PubMed Central

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17 June 2017

254

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Europe PubMed Central

PubMed publication ID

17 June 2017

6

1 reference

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PubMed publication ID

17 June 2017

797-802

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

https://scigraph.springernature.com/pub.10.1007/s00415-006-0447-x

0 references

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

McArdle's disease presenting with asymmetric, late-onset arm weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution of allosteric control in glycogen phosphorylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of glycogen phosphorylase a at 2.5 Å resolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17404776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-006-0447-X

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 June 2017

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