515 related articles for article (PubMed ID: 17913675)
1. [Late diagnosis of a McArdle disease's case (type V glycogenosis)].
Flavier S; Rolland MO; Eude M; Fédou C; Brun JF; Maire I; Mercier J; Raynaud E
Ann Biol Clin (Paris); 2007; 65(5):550-4. PubMed ID: 17913675
[TBL] [Abstract][Full Text] [Related]
2. [McArdle's disease. Apropos of a case].
Yuste JR; Beloqui O; De la Peña A; Rodríguez-Rosado R; Monreal JI; Prósper F; Prieto J
Rev Med Univ Navarra; 1998; 42(1):29-33. PubMed ID: 10420954
[TBL] [Abstract][Full Text] [Related]
3. [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. PubMed ID: 18808785
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
Ørngreen MC; Schelhaas HJ; Jeppesen TD; Akman HO; Wevers RA; Andersen ST; ter Laak HJ; van Diggelen OP; DiMauro S; Vissing J
Neurology; 2008 May; 70(20):1876-82. PubMed ID: 18401027
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 19433441
[TBL] [Abstract][Full Text] [Related]
7. McArdle's disease diagnosed following statin-induced myositis.
Livingstone C; Al Riyami S; Wilkins P; Ferns GA
Ann Clin Biochem; 2004 Jul; 41(Pt 4):338-40. PubMed ID: 15298748
[TBL] [Abstract][Full Text] [Related]
8. [McArdle's disease in a 14-year-old girl with fatigability and raised muscle enzymes].
López-Pisón J; Muñoz-Albillos MS; Boudet-García A; Giménez-Más JA; Peña-Segura JL; Abenia-Usón P
Rev Neurol; 2000 May 16-31; 30(10):932-4. PubMed ID: 10919189
[TBL] [Abstract][Full Text] [Related]
9. Exercise intolerance in patients with McArdle's disease or mitochondrial myopathies.
Chaussain M; Camus F; Defoligny C; Eymard B; Fardeau M
Eur J Med; 1992 Dec; 1(8):457-63. PubMed ID: 1341204
[TBL] [Abstract][Full Text] [Related]
10. Mcardle's disease. A case report.
Dirik E; Taşkin F; Eroğlu Y; Büyükgebiz B; Selamzade M; Cevik NT
Turk J Pediatr; 1996; 38(3):355-9. PubMed ID: 8827906
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 17221871
[TBL] [Abstract][Full Text] [Related]
12. [McArdle disease: differential diagnosis of the increase in creatine kinase induced by the exercise test].
Frick E; Reutter FW; Weder B
Schweiz Med Wochenschr; 1988 Dec; 118(52):1993-6. PubMed ID: 3217781
[TBL] [Abstract][Full Text] [Related]
13. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
Gámez J; Rubio JC; Martín MA; Fernández-Cadenas I; Garcia-Arumi E; Andreu AL; Arenas J
Muscle Nerve; 2003 Sep; 28(3):380-2. PubMed ID: 12929201
[TBL] [Abstract][Full Text] [Related]
14. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Preisler N; Orngreen MC; Echaniz-Laguna A; Laforet P; Lonsdorfer-Wolf E; Doutreleau S; Geny B; Akman HO; Dimauro S; Vissing J
Neurology; 2012 Jan; 78(4):265-8. PubMed ID: 22238410
[TBL] [Abstract][Full Text] [Related]
15. McArdle disease in a Druze family.
Sarova-Pinhas I; Sadeh M
Isr J Med Sci; 1989 Feb; 25(2):64-8. PubMed ID: 2703328
[TBL] [Abstract][Full Text] [Related]
16. Ischemic exercise test: failure to detect partial expression of McArdle's disease.
Taylor RG; Lieberman JS; Portwood MM
Muscle Nerve; 1987; 10(6):546-51. PubMed ID: 3476851
[TBL] [Abstract][Full Text] [Related]
17. Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.
Krishnamoorthy N; Santosh V; Yasha TC; Mahadevan A; Shankar SK; Jethwani D; Taly AB; Bhanu K; Gayathri N
Neurol India; 2011; 59(6):884-6. PubMed ID: 22234204
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
García-Consuegra I; Rubio JC; Nogales-Gadea G; Bautista J; Jiménez S; Cabello A; Lucía A; Andreu AL; Arenas J; Martin MA
J Med Genet; 2009 Mar; 46(3):198-202. PubMed ID: 19251976
[TBL] [Abstract][Full Text] [Related]
19. [McArdle's disease without typical symptoms].
Watanabe M; Matsubara E; Amari M; Okamoto K; Hirai S
Rinsho Shinkeigaku; 1990 Nov; 30(11):1247-51. PubMed ID: 2085931
[TBL] [Abstract][Full Text] [Related]
20. Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).
Miteff F; Potter HC; Allen J; Teoh H; Roxburgh R; Hutchinson DO
J Clin Neurosci; 2011 Aug; 18(8):1055-8. PubMed ID: 21658951
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
