Santorelli FM - Search Results

1

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: santorelli fm. J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29. J Neurol. 2014. PMID: 24375076

2

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

3

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

4

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

5

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. Ann Neurol. 1996 Jun;39(6):789-95. doi: 10.1002/ana.410390615. Ann Neurol. 1996. PMID: 8651651

6

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. Pediatr Neurol. 1996 Sep;15(2):145-9. doi: 10.1016/0887-8994(96)00163-4. Pediatr Neurol. 1996. PMID: 8888049 Free article.

7

Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S. Santorelli FM, et al. Neuromuscul Disord. 1997 May;7(3):156-9. doi: 10.1016/s0960-8966(97)00444-6. Neuromuscul Disord. 1997. PMID: 9185178 Free article.

8

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

9

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

Bruno C, Minetti C, Tang Y, Magalhães PJ, Santorelli FM, Shanske S, Bado M, Cordone G, Gatti R, DiMauro S. Bruno C, et al. Among authors: santorelli fm. J Inherit Metab Dis. 1998 Apr;21(2):155-61. doi: 10.1023/a:1005347826664. J Inherit Metab Dis. 1998. PMID: 9584267

10

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

Vilarinho L, Santorelli FM, Cardoso ML, Coelho T, Guimarães A, Coutinho P. Vilarinho L, et al. Among authors: santorelli fm. Eur Neurol. 1998;39(3):148-53. doi: 10.1159/000007925. Eur Neurol. 1998. PMID: 9605391

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