Vilarinho L - Search Results

1

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: vilarinho l. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

2

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. 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.

3

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. Among authors: vilarinho l. 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.

4

Heterogeneous presentation in Leigh syndrome.

Vilarinho L, Maia C, Coelho T, Coutinho P, Santorelli FM. Vilarinho L, et al. 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.

5

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. Eur Neurol. 1998;39(3):148-53. doi: 10.1159/000007925. Eur Neurol. 1998. PMID: 9605391

6

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. 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.

7

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. 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.

8

About the "Pathological" role of the mtDNA T3308C mutationellipsis.

Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A. Rocha H, et al. Among authors: vilarinho l. Am J Hum Genet. 1999 Nov;65(5):1457-9. doi: 10.1086/302641. Am J Hum Genet. 1999. PMID: 10521313 Free PMC article. No abstract available.

9

MtDNA-related idiopathic dilated cardiomyopathy.

Tessa A, Vilarinho L, Casali C, Santorelli FM. Tessa A, et al. Among authors: vilarinho l. Eur J Hum Genet. 1999 Dec;7(8):847-8. doi: 10.1038/sj.ejhg.5200380. Eur J Hum Genet. 1999. PMID: 10602359 No abstract available.

10

Clinical and molecular studies in three Portuguese mtDNA T8993G families.

Vilarinho L, Leão E, Barbot C, Santos M, Rocha H, Santorelli FM. Vilarinho L, et al. Pediatr Neurol. 2000 Jan;22(1):29-32. doi: 10.1016/s0887-8994(99)00113-7. Pediatr Neurol. 2000. PMID: 10669202

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