Santorelli FM - Search Results

1

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Vilarinho L, Barbot C, Carrozzo R, Calado E, Tessa A, Dionisi-Vici C, Guimarães A, Santorelli FM. Vilarinho L, et al. Among authors: santorelli fm. J Inherit Metab Dis. 2001 Dec;24(8):883-4. doi: 10.1023/a:1013908728445. J Inherit Metab Dis. 2001. PMID: 11916326 No abstract available.

2

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

3

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.

4

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S. Vilarinho L, et al. Among authors: santorelli fm. J Med Genet. 1997 Jul;34(7):607-9. doi: 10.1136/jmg.34.7.607. J Med Genet. 1997. PMID: 9222976 Free PMC article.

5

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Santorelli FM, et al. Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8. doi: 10.1006/bbrc.1997.7167. Biochem Biophys Res Commun. 1997. PMID: 9299505 Free article.

6

Heterogeneous presentation in Leigh syndrome.

Vilarinho L, Maia C, Coelho T, Coutinho P, Santorelli FM. Vilarinho L, et al. Among authors: santorelli fm. J Inherit Metab Dis. 1997 Sep;20(5):704-5. doi: 10.1023/a:1005330611147. J Inherit Metab Dis. 1997. PMID: 9323566 No abstract available.

7

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF. Carrozzo R, et al. Among authors: santorelli fm. Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. Neurology. 1998. PMID: 9443465

8

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

9

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients.

Vilarinho L, Chorão R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM. Vilarinho L, et al. Among authors: santorelli fm. J Inherit Metab Dis. 1999 Feb;22(1):90-1. doi: 10.1023/a:1005471904710. J Inherit Metab Dis. 1999. PMID: 10070626 No abstract available.

10

The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.

Vilarinho L, Santorelli FM, Coelho I, Rodrigues L, Maia M, Barata I, Cabral P, Dionísio A, Costa A, Guimarães A, DiMauro S. Vilarinho L, et al. Among authors: santorelli fm. J Neurol Sci. 1999 Mar 1;163(2):168-74. doi: 10.1016/s0022-510x(99)00030-1. J Neurol Sci. 1999. PMID: 10371079 Free article.

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