Shanske S - Search Results

1

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.

Hadjigeorgiou GM, Papadimitriou A, Musumeci O, Paterakis K, Flabouriari K, Shanske S, DiMauro S. Hadjigeorgiou GM, et al. Among authors: shanske s. J Neurol Sci. 2002 Feb 15;194(1):83-6. doi: 10.1016/s0022-510x(01)00662-1. J Neurol Sci. 2002. PMID: 11809171

2

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. Hadjigeorgiou GM, et al. Among authors: shanske s. Neuromuscul Disord. 2002 Nov;12(9):824-7. doi: 10.1016/s0960-8966(02)00028-7. Neuromuscul Disord. 2002. PMID: 12398832 Clinical Trial.

3

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.

Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S. Mancuso M, et al. Among authors: shanske s. J Neurol Sci. 2003 May 15;209(1-2):61-3. doi: 10.1016/s0022-510x(02)00462-8. J Neurol Sci. 2003. PMID: 12686403

4

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.

Hadjigeorgiou GM, Kim SH, Fischbeck KH, Andreu AL, Berry GT, Bingham P, Shanske S, Bonilla E, DiMauro S. Hadjigeorgiou GM, et al. Among authors: shanske s. J Neurol Sci. 1999 Apr 1;164(2):153-7. doi: 10.1016/s0022-510x(99)00062-3. J Neurol Sci. 1999. PMID: 10402027

5

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. Bruno C, et al. Among authors: shanske s. J Neurol Sci. 1999 Jun 1;165(2):121-5. doi: 10.1016/s0022-510x(99)00091-x. J Neurol Sci. 1999. PMID: 10450796 Free article.

6

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

Tsujino S, Shanske S, DiMauro S. Tsujino S, et al. Among authors: shanske s. N Engl J Med. 1993 Jul 22;329(4):241-5. doi: 10.1056/NEJM199307223290404. N Engl J Med. 1993. PMID: 8316268 Free article.

7

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

el-Schahawi M, Tsujino S, Shanske S, DiMauro S. el-Schahawi M, et al. Among authors: shanske s. Neurology. 1996 Aug;47(2):579-80. doi: 10.1212/wnl.47.2.579. Neurology. 1996. PMID: 8757044

8

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. Bruno C, et al. Among authors: shanske s. Neuromuscul Disord. 1999 Jan;9(1):34-7. doi: 10.1016/s0960-8966(98)00096-0. Neuromuscul Disord. 1999. PMID: 10063833 Free article. Clinical Trial.

9

Polymorphic variants in the human mitochondrial cytochrome b gene.

Andreu AL, Bruno C, Hadjigeorgiou GM, Shanske S, DiMauro S. Andreu AL, et al. Among authors: shanske s. Mol Genet Metab. 1999 May;67(1):49-52. doi: 10.1006/mgme.1999.2843. Mol Genet Metab. 1999. PMID: 10329023 Free article.

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. Among authors: shanske s. 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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