Santorelli FM - Search Results

1

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

2

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: santorelli fm. Hum Mutat. 1994;3(1):37-43. doi: 10.1002/humu.1380030107. Hum Mutat. 1994. PMID: 7906985

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: santorelli fm. 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. 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. Ann Neurol. 1993 Dec;34(6):827-34. doi: 10.1002/ana.410340612. Ann Neurol. 1993. PMID: 8250532

6

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: santorelli fm. J Inherit Metab Dis. 1996;19(1):43-50. doi: 10.1007/BF01799347. J Inherit Metab Dis. 1996. PMID: 8830176

7

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. Neurology. 1996 Nov;47(5):1320-3. doi: 10.1212/wnl.47.5.1320. Neurology. 1996. PMID: 8909450

8

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.

Santorelli FM, Tanji K, Shanske S, DiMauro S. Santorelli FM, et al. Neurology. 1997 Jul;49(1):270-3. doi: 10.1212/wnl.49.1.270. Neurology. 1997. PMID: 9222207

9

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.

Santorelli FM, Tanji K, Shanske S, Krishna S, Schmidt RE, Greenwood RS, DiMauro S, De Vivo DC. Santorelli FM, et al. Ann Neurol. 1998 Dec;44(6):962-4. doi: 10.1002/ana.410440616. Ann Neurol. 1998. PMID: 9851442

10

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S. Bruno C, et al. Among authors: santorelli fm. J Pediatr. 1999 Aug;135(2 Pt 1):197-202. doi: 10.1016/s0022-3476(99)70022-3. J Pediatr. 1999. PMID: 10431114 Free article.

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