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Items: 1 to 20 of 138

1.

McArdle disease: molecular genetic update.

Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C.

Acta Myol. 2007 Jul;26(1):53-7. Review.

2.

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

Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M.

J Neurol. 2007 Jun;254(6):797-802. Epub 2007 Apr 3.

PMID:
17404776
3.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL.

Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21.

4.

[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].

Delmont E, Sacconi S, Berge-Lefranc JL, Aquaron R, Butori C, Desnuelle C.

Rev Neurol (Paris). 2008 Nov;164(11):912-6. doi: 10.1016/j.neurol.2008.03.020. Epub 2008 Jun 3. French.

PMID:
18808785
5.

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

Quintans B, Sanchez-Andrade A, Teijeira S, Fernandez-Hojas R, Rivas E, López MJ, Navarro C.

Arch Neurol. 2004 Jul;61(7):1108-10.

PMID:
15262743
6.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320016
7.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):337. No abstract available.

PMID:
19309783
8.

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

Vissing J, Duno M, Schwartz M, Haller RG.

Brain. 2009 Jun;132(Pt 6):1545-52. doi: 10.1093/brain/awp065. Epub 2009 May 11.

9.

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.

Fernandez-Cadenas I, Andreu AL, Gamez J, Gonzalo R, Martín MA, Rubio JC, Arenas J.

Neurology. 2003 Nov 25;61(10):1432-4.

PMID:
14638972
10.

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA.

Hum Mutat. 2007 Feb;28(2):203-4.

PMID:
17221871
11.

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

Deschauer M, Opalka JR, Lindner A, Zierz S.

Mol Genet Metab. 2001 Dec;74(4):489-91.

PMID:
11749054
12.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Otolano S, Parente P, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):351. No abstract available.

PMID:
19320039
13.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):339. No abstract available.

PMID:
19309804
14.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):335. No abstract available.

PMID:
19309779
15.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):349. No abstract available.

PMID:
19320035
16.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320018
17.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):339. No abstract available.

PMID:
19309786
18.

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Duno M, Quinlivan R, Vissing J, Schwartz M.

Ann Hum Genet. 2009 May;73(Pt 3):292-7.

PMID:
19472443
19.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Otolano S, Parente P, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):352. No abstract available.

PMID:
19320040
20.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):338. No abstract available.

PMID:
19309802
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