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Items: 1 to 20 of 109

1.

Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.

Tsujino S, Shanske S, Carroll JE, Sabina RL, DiMauro S.

Neuromuscul Disord. 1995 Jul;5(4):263-6.

PMID:
7580237
2.

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.

Rubio JC, Martín MA, Bautista J, Campos Y, Segura D, Arenas J.

Neuromuscul Disord. 1997 Sep;7(6-7):387-9.

PMID:
9327403
3.

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.

4.

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
5.

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.

Rubio JC, Martín MA, Bautista J, Campos Y, Segura D, Cabello A, Chinchón I, Arenas J.

J Neurol Sci. 1998 Dec 11;161(2):110-3.

PMID:
9879690
6.

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
7.

[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].

Pantoja-Martínez J, Navarro Fernández-Balbuena C, Gormaz-Moreno M, Quintans-Castro B, Esparza-Sánchez MA, Bonet-Arzo J.

Rev Neurol. 2004 Sep 1-15;39(5):431-4. Spanish.

8.

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
9.

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.

Hadjigeorgiou GM, Sadeh M, Musumeci O, Dabby R, De Girolami L, Naini A, Papadimitriou A, Shanske S, DiMauro S.

Neuromuscul Disord. 2002 Nov;12(9):824-7.

PMID:
12398832
10.

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
11.

Genetic test for myophosphorylase deficiency in Charolais cattle.

Bilstrom JA, Valberg SJ, Bernoco D, Mickelson JR.

Am J Vet Res. 1998 Mar;59(3):267-70.

PMID:
9522942
12.

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.

PMID:
12031624
13.

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

Castro-Gago M, Gómez-Lado C, Pérez-Gay L, Eirís-Puñal J, Martínez EP, García-Consuegra I, Martín MA.

J Child Neurol. 2011 Jun;26(6):734-7. doi: 10.1177/0883073810390367. Epub 2011 Feb 22.

PMID:
21343608
14.

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
15.

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.

Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G, DiMauro S.

Neurology. 1998 Jan;50(1):296-8.

PMID:
9443500
16.

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Teijeira S, San Millán B, Fernández JM, Rivas E, Viéitez I, Miranda S, González F, Navarro C.

Clin Neuropathol. 2009 Mar-Apr;28(2):136-42.

17.
18.

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.

PMID:
12929201
19.

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
20.

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J.

Neuromuscul Disord. 2007 Mar;17(3):235-41. Epub 2007 Feb 26.

PMID:
17324573

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