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Page 1
Mutation analysis in 16 patients with mtDNA depletion.
Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Among authors: vilarinho l. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576
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.
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.
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Vilarinho L, et al. Hum Mutat. 2005 Oct;26(4):395-6. doi: 10.1002/humu.9373. Hum Mutat. 2005. PMID: 16134148
Syndromes associated with mitochondrial DNA depletion.
Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Nogueira C, et al. Among authors: vilarinho l. Ital J Pediatr. 2014 Apr 3;40:34. doi: 10.1186/1824-7288-40-34. Ital J Pediatr. 2014. PMID: 24708634 Free PMC article. Review.
178 results