DiMauro S - Search Results

1

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion.

Santorelli FM, Barmada MA, Pons R, Zhang LL, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Neurology. 1996 Nov;47(5):1320-3. doi: 10.1212/wnl.47.5.1320. Neurology. 1996. PMID: 8909450

2

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

3

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

4

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

5

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.

Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Ann Neurol. 1993 Dec;34(6):827-34. doi: 10.1002/ana.410340612. Ann Neurol. 1993. PMID: 8250532

6

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.

Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mendell JR, Hays AP, Bertorini TE, Pestronk A, Bonilla E, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Ann Neurol. 1996 Jun;39(6):789-95. doi: 10.1002/ana.410390615. Ann Neurol. 1996. PMID: 8651651

7

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

Santorelli FM, Mak SC, Vazquez-Memije ME, Shanske S, Kranz-Eble P, Jain KD, Bluestone DL, De Vivo DC, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Pediatr Res. 1996 May;39(5):914-7. doi: 10.1203/00006450-199605000-00028. Pediatr Res. 1996. PMID: 8726250

8

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.

Vazquez-Memije ME, Shanske S, Santorelli FM, Kranz-Eble P, Davidson E, DeVivo DC, DiMauro S. Vazquez-Memije ME, et al. Among authors: dimauro s. J Inherit Metab Dis. 1996;19(1):43-50. doi: 10.1007/BF01799347. J Inherit Metab Dis. 1996. PMID: 8830176

9

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.

Santorelli FM, Schlessel JS, Slonim AE, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Pediatr Neurol. 1996 Sep;15(2):145-9. doi: 10.1016/0887-8994(96)00163-4. Pediatr Neurol. 1996. PMID: 8888049 Free article.

10

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.

Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, Santorelli FM, Miranda AF, Bonilla E, Mojon DS, Barreira AA, King MP, DiMauro S. Sobreira C, et al. Among authors: dimauro s. Neurology. 1997 May;48(5):1238-43. doi: 10.1212/wnl.48.5.1238. Neurology. 1997. PMID: 9153450

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