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Items: 1 to 20 of 101

1.

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

Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S.

Hum Mutat. 1995;6(3):276-7. No abstract available.

PMID:
8535454
2.

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).

Tsujino S, Shanske S, Nonaka I, DiMauro S.

Muscle Nerve Suppl. 1995;3:S23-7.

PMID:
7603523
3.

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).

Tsujino S, Rubin LA, Shanske S, DiMauro S.

Hum Mutat. 1994;4(1):73-5. No abstract available.

PMID:
7951262
4.

Molecular characterization of McArdle's disease in two large Finnish families.

Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou GM, Andreu AL, Shanske S, Somer H, DiMauro S.

J Neurol Sci. 1999 Jun 1;165(2):121-5.

PMID:
10450796
5.
6.

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.

Bruno C, Tamburino L, Kawashima N, Andreu AL, Shanske S, Hadjigeorgiou GM, Kawashima A, DiMauro S.

Neuromuscul Disord. 1999 Jan;9(1):34-7.

PMID:
10063833
7.

Diagnosis of McArdle's disease by molecular genetic analysis of blood.

el-Schahawi M, Tsujino S, Shanske S, DiMauro S.

Neurology. 1996 Aug;47(2):579-80.

PMID:
8757044
8.

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.

Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S.

Neuromuscul Disord. 1999 May;9(3):171-3.

PMID:
10382911
9.

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Rubio JC, Martín MA, Campos Y, Cabello A, Arenas J.

Neuromuscul Disord. 2000 Feb;10(2):138-40.

PMID:
10714589
10.

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

Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J.

Ann Hum Genet. 2004 Jan;68(Pt 1):17-22.

PMID:
14748827
11.

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

Tsujino S, Shanske S, DiMauro S.

N Engl J Med. 1993 Jul 22;329(4):241-5.

12.

[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 Jan-Mar;42(1):29-33. Spanish.

PMID:
10420954
13.

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Martín MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J.

Neuromuscul Disord. 2000 Aug;10(6):447-9.

PMID:
10899452
14.

McArdle's disease: molecular genetics and metabolic consequences of the phenotype.

Beynon RJ, Bartram C, Hopkins P, Toescu V, Gibson H, Phoenix J, Edwards RH.

Muscle Nerve Suppl. 1995;3:S18-22.

PMID:
7603521
15.

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW.

Ann Neurol. 1998 Mar;43(3):326-31.

PMID:
9506549
16.

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.

Tsujino S, Shanske S, Valberg SJ, Cardinet GH 3rd, Smith BP, DiMauro S.

Neuromuscul Disord. 1996 Jan;6(1):19-26.

PMID:
8845714
17.

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Rubio JC, Martín MA, Campos Y, Auciello R, Cabello A, Arenas J.

Muscle Nerve. 2000 Jan;23(1):129-31.

PMID:
10590419
18.

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J.

Neuromuscul Disord. 1999 May;9(3):174-5.

PMID:
10382912
19.

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S.

J Child Neurol. 2000 Feb;15(2):137-8.

PMID:
10695902
20.

Peripheral nerve and vasculature involvement in myophosphorylase deficiency (McArdle's disease).

Byard RW, Lach B, Preston DN.

Pathology. 1991 Jan;23(1):62-5.

PMID:
2062570

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