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Items: 1 to 20 of 163

1.

Muscle phosphoglycerate mutase deficiency revisited.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S.

Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584.

PMID:
19273759
2.

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.

Oh SJ, Park KS, Ryan HF Jr, Danon MJ, Lu J, Naini AB, DiMauro S.

Muscle Nerve. 2006 Nov;34(5):572-6.

PMID:
16881065
3.

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ, Kawashima A, Shanske S, DiMauro S.

Neuromuscul Disord. 1999 Oct;9(6-7):399-402.

PMID:
10545043
4.

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.

Salameh J, Goyal N, Choudry R, Camelo-Piragua S, Chong PS.

Muscle Nerve. 2013 Jan;47(1):138-40. doi: 10.1002/mus.23527. Epub 2012 Nov 21.

PMID:
23169535
5.

Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy.

Poulton KR, Khan AA, Rossi ML, Riddoch D.

Funct Neurol. 1994 Jan-Feb;9(1):47-58.

PMID:
8082854
6.

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.

Toscano A, Tsujino S, Vita G, Shanske S, Messina C, Dimauro S.

Muscle Nerve. 1996 Sep;19(9):1134-7.

PMID:
8761269
7.

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, Piccolo G.

Neuromuscul Disord. 2009 Nov;19(11):776-8. doi: 10.1016/j.nmd.2009.08.007. Epub 2009 Sep 23.

PMID:
19783439
8.

Muscle phosphoglycerate mutase deficiency.

DiMauro S, Miranda AF, Olarte M, Friedman R, Hays AP.

Neurology. 1982 Jun;32(6):584-91.

PMID:
6283419
9.

Muscle phosphoglycerate mutase (PGAM) deficiency: a second case.

Bresolin N, Ro YI, Reyes M, Miranda AF, DiMauro S.

Neurology. 1983 Aug;33(8):1049-53.

PMID:
6308514
10.

Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy: the first Japanese patient.

Kawashima N, Mishima M, Shindo R, Hirano M, Kuwabara S, Saitoh H, Miyazaki T.

Intern Med. 1996 Oct;35(10):799-802.

11.

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency.

Vissing J, Quistorff B, Haller RG.

Arch Neurol. 2005 Sep;62(9):1440-3.

PMID:
16157752
12.

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.

Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S.

Muscle Nerve Suppl. 1995;3:S50-3.

PMID:
7603528
13.

Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.

Vita G, Toscano A, Bresolin N, Meola G, Fortunato F, Baradello A, Barbiroli B, Frassineti C, Zaniol P, Messina C.

J Neurol. 1994 Mar;241(5):289-94.

PMID:
8006681
14.

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.

Joshi PR, Knape M, Zierz S, Deschauer M.

Acta Neuropathol. 2009 Jun;117(6):723-5. doi: 10.1007/s00401-009-0524-1. Epub 2009 Mar 26. No abstract available.

PMID:
19322572
15.

Tarui disease and distal glycogenoses: clinical and genetic update.

Toscano A, Musumeci O.

Acta Myol. 2007 Oct;26(2):105-7. Review.

16.

Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test.

Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR.

Neurology. 1985 Jun;35(6):828-33.

PMID:
2987758
17.

Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy.

DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R.

Science. 1981 Jun 12;212(4500):1277-9.

PMID:
6262916
18.

Disorders of glycogen metabolism of muscle.

Servidei S, DiMauro S.

Neurol Clin. 1989 Feb;7(1):159-78. Review.

PMID:
2646520
19.

Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene.

Vissing J, Schmalbruch H, Haller RG, Clausen T.

Ann Neurol. 1999 Aug;46(2):274-7.

PMID:
10443898
20.

The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S.

Am J Hum Genet. 1993 Mar;52(3):472-7.

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