224 related articles for article (PubMed ID: 12508303)
21. 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. PubMed ID: 19320016
[No Abstract] [Full Text] [Related]
22. 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. PubMed ID: 19309783
[No Abstract] [Full Text] [Related]
23. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; Miranda S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):295. PubMed ID: 18846611
[No Abstract] [Full Text] [Related]
24. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; Miranda S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):294-5. PubMed ID: 18846610
[No Abstract] [Full Text] [Related]
25. 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. PubMed ID: 19320039
[No Abstract] [Full Text] [Related]
26. 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. PubMed ID: 19309804
[No Abstract] [Full Text] [Related]
27. 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. PubMed ID: 19309779
[No Abstract] [Full Text] [Related]
28. [Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
Fernandez-Cadenas I; Nogales-Gadea G; Llige D; Rubio JC; Montaner J; Arenas J; Raspall-Chaure M; Roig-Quilis M; Andreu AL
Rev Neurol; 2007 Sep 1-15; 45(5):280-3. PubMed ID: 17876739
[TBL] [Abstract][Full Text] [Related]
29. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
Bruno C; Lanzillo R; Biedi C; Iadicicco L; Minetti C; Santoro L
Neuromuscul Disord; 2002 Jun; 12(5):498-500. PubMed ID: 12031624
[TBL] [Abstract][Full Text] [Related]
30. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.
Martín MA; Rubio JC; Buchbinder J; Fernández-Hojas R; del Hoyo P; Teijeira S; Gámez J; Navarro C; Fernández JM; Cabello A; Campos Y; Cervera C; Culebras JM; Andreu AL; Fletterick R; Arenas J
Ann Neurol; 2001 Nov; 50(5):574-81. PubMed ID: 11706962
[TBL] [Abstract][Full Text] [Related]
31. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; Miranda S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):300. PubMed ID: 18846623
[No Abstract] [Full Text] [Related]
32. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):320. PubMed ID: 18846677
[No Abstract] [Full Text] [Related]
33. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):307. PubMed ID: 18846642
[No Abstract] [Full Text] [Related]
34. Gene symbol: PYGM. Disease: McArdle disease.
Viéitez I; Teijeira S; Miranda S; San Millán B; Navarro C
Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846609
[No Abstract] [Full Text] [Related]
35. Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
Kubisch C; Wicklein EM; Jentsch TJ
Hum Mutat; 1998; 12(1):27-32. PubMed ID: 9633816
[TBL] [Abstract][Full Text] [Related]
36. 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. PubMed ID: 22730558
[TBL] [Abstract][Full Text] [Related]
37. Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Wu Y; Weber JL; Vladutiu GD; Tarnopolsky MA
Mol Genet Metab; 2011 Dec; 104(4):587-91. PubMed ID: 21880526
[TBL] [Abstract][Full Text] [Related]
38. Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.
Martín MA; Rubio JC; Campos Y; Vílchez J; Cabello A; Arenas J
Hum Mutat; 2000 Mar; 15(3):294. PubMed ID: 10679948
[TBL] [Abstract][Full Text] [Related]
39. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
[TBL] [Abstract][Full Text] [Related]
40. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
Tsujino S; Shanske S; DiMauro S
N Engl J Med; 1993 Jul; 329(4):241-5. PubMed ID: 8316268
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
