DiMauro S - Search Results

1

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Silvestri G, et al. Among authors: dimauro s. Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200. Neurology. 1993. PMID: 8170567

2

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

3

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

4

Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.

Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S. Tay SK, et al. Among authors: dimauro s. J Child Neurol. 2005 Feb;20(2):142-6. doi: 10.1177/08830738050200022301. J Child Neurol. 2005. PMID: 15794182

5

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S. Thyagarajan D, et al. Among authors: dimauro s. Ann Neurol. 1995 Sep;38(3):468-72. doi: 10.1002/ana.410380321. Ann Neurol. 1995. PMID: 7668837

6

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT. Manfredi G, et al. Among authors: dimauro s. Neurology. 1995 Apr;45(4):762-8. doi: 10.1212/wnl.45.4.762. Neurology. 1995. PMID: 7723967

7

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S. Silvestri G, et al. Among authors: dimauro s. Hum Mutat. 1994;3(1):37-43. doi: 10.1002/humu.1380030107. Hum Mutat. 1994. PMID: 7906985

8

Maternally inherited Leigh syndrome.

Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Ciafaloni E, et al. Among authors: dimauro s. J Pediatr. 1993 Mar;122(3):419-22. doi: 10.1016/s0022-3476(05)83431-6. J Pediatr. 1993. PMID: 8095070

9

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.

Wilkinson DA, Tonin P, Shanske S, Lombes A, Carlson GM, DiMauro S. Wilkinson DA, et al. Among authors: dimauro s. Neurology. 1994 Mar;44(3 Pt 1):461-6. doi: 10.1212/wnl.44.3_part_1.461. Neurology. 1994. PMID: 8145916

10

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972. Neurology. 1994. PMID: 8190310

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