PubMed (OMIM) for id: 5341

Year	Number of Results
1959	1
1961	2
1962	1
1965	1
1966	1
1968	1
1972	1
1973	1
1976	1
1978	1
1979	1
1980	1
1981	3
1983	1
1984	1
1985	1
1986	4
1987	4
1988	1
1989	3
1990	2
1992	1
1993	3
1994	2
1995	1
1996	1
1997	1
1998	2
1999	1
2000	1
2001	1
2002	1
2003	3
2024	0

1

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease.

Vissing J, Haller RG. Vissing J, et al. N Engl J Med. 2003 Dec 25;349(26):2503-9. doi: 10.1056/NEJMoa031836. N Engl J Med. 2003. PMID: 14695410 Free article. Clinical Trial.

2

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. Fernandez-Cadenas I, et al. Neurology. 2003 Nov 25;61(10):1432-4. doi: 10.1212/wnl.61.10.1432. Neurology. 2003. PMID: 14638972

3

Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle.

SCHMID R, MAHLER R. SCHMID R, et al. J Clin Invest. 1959 Nov;38(11):2044-58. doi: 10.1172/JCI103983. J Clin Invest. 1959. PMID: 14442994 Free PMC article. No abstract available.

4

Glycogen storage disease of the muscles. Report of a case with unusual features.

DI SANT'AGNESE PA, ANDERSEN DH, METCALF KM. DI SANT'AGNESE PA, et al. J Pediatr. 1962 Sep;61:438-42. doi: 10.1016/s0022-3476(62)80375-8. J Pediatr. 1962. PMID: 13886062 No abstract available.

5

Hereditary absence of muscle phosphorylase (McArdle's syndrome).

SCHMID R, HAMMAKER L. SCHMID R, et al. N Engl J Med. 1961 Feb 2;264:223-5. doi: 10.1056/NEJM196102022640504. N Engl J Med. 1961. PMID: 13747935 No abstract available.

6

A metabolic myopathy due to absence of muscle phosphorylase.

PEARSON CM, RIMER DG, MOMMAERTS WF. PEARSON CM, et al. Am J Med. 1961 Apr;30:502-17. doi: 10.1016/0002-9343(61)90075-4. Am J Med. 1961. PMID: 13733779 No abstract available.

7

Phenotype modulators in myophosphorylase deficiency.

Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117

8

A nonischemic forearm exercise test for McArdle disease.

Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J. Kazemi-Esfarjani P, et al. Ann Neurol. 2002 Aug;52(2):153-9. doi: 10.1002/ana.10263. Ann Neurol. 2002. PMID: 12210784 Clinical Trial.

9

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.

Martín MA, Rubio JC, García A, Fernández MA, Campos Y, Krawczak M, Cooper DN, Arenas J. Martín MA, et al. Clin Genet. 2001 Jan;59(1):48-51. doi: 10.1034/j.1399-0004.2001.590108.x. Clin Genet. 2001. PMID: 11168025

10

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

Fernández R, Navarro C, Andreu AL, Bruno C, Shanske S, Gámez J, Teijeira S, Hernández I, Teijeiro A, Fernández JM, Musumeci O, DiMauro S. Fernández R, et al. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

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