DiMauro S - Search Results

1

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: dimauro 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

2

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: dimauro 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

3

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S. Sacconi S, et al. Among authors: dimauro s. Arch Neurol. 2002 Jun;59(6):1013-5. doi: 10.1001/archneur.59.6.1013. Arch Neurol. 2002. PMID: 12056939

4

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Among authors: dimauro s. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

5

Mitochondrial disorders.

DiMauro S, Andreu AL, De Vivo DC. DiMauro S, et al. J Child Neurol. 2002 Dec;17 Suppl 3:3S35-45; discussion 3S46-7. J Child Neurol. 2002. PMID: 12597054 Review.

6

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: dimauro 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

7

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: dimauro s. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

8

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Among authors: dimauro s. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

9

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.

Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S. Mancuso M, et al. Among authors: dimauro s. J Neurol Sci. 2005 Jan 15;228(1):93-7. doi: 10.1016/j.jns.2004.10.018. J Neurol Sci. 2005. PMID: 15607216

10

Mitochondrial myopathy associated with a novel mutation in mtDNA.

Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. Pancrudo J, et al. Among authors: dimauro s. Neuromuscul Disord. 2007 Aug;17(8):651-4. doi: 10.1016/j.nmd.2007.04.005. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588757 Free PMC article.

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