Santorelli FM - Search Results

1

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. Arenas J, et al. Among authors: santorelli fm. Neurology. 1999 Jan 15;52(2):377-82. doi: 10.1212/wnl.52.2.377. Neurology. 1999. PMID: 9932960

2

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

Santorelli FM, Mak SC, Vàzquez-Acevedo M, González-Astiazarán A, Ridaura-Sanz C, González-Halphen D, DiMauro S. Santorelli FM, et al. Biochem Biophys Res Commun. 1995 Nov 22;216(3):835-40. doi: 10.1006/bbrc.1995.2697. Biochem Biophys Res Commun. 1995. PMID: 7488201

3

A novel mtDNA point mutation in maternally inherited cardiomyopathy.

Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S. Casali C, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 1995 Aug 15;213(2):588-93. doi: 10.1006/bbrc.1995.2172. Biochem Biophys Res Commun. 1995. PMID: 7646516

4

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

5

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: santorelli fm. J Pediatr. 1993 Mar;122(3):419-22. doi: 10.1016/s0022-3476(05)83431-6. J Pediatr. 1993. PMID: 8095070

6

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

7

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

8

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

9

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S. Bohlega S, et al. Among authors: santorelli fm. Neurology. 1996 May;46(5):1329-34. doi: 10.1212/wnl.46.5.1329. Neurology. 1996. PMID: 8628476

10

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Santorelli FM, et al. Am J Hum Genet. 1996 May;58(5):933-9. Am J Hum Genet. 1996. PMID: 8651277 Free PMC article.

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