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Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M, Vilarinho L. Schubert Baldo M, et al. Among authors: vilarinho l. Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9. Orphanet J Rare Dis. 2020. PMID: 31996241 Free PMC article. Review.
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.
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.
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.
Lopes T, Coelho M, Bordalo D, Bandeira A, Bandeira A, Vilarinho L, Fonseca P, Carvalho S, Martins C, Oliveira JG. Lopes T, et al. Among authors: vilarinho l. Rev Paul Pediatr. 2018 Oct-Dec;36(4):519-523. doi: 10.1590/1984-0462/;2018;36;4;00003. Epub 2018 Oct 29. Rev Paul Pediatr. 2018. PMID: 30379275 Free PMC article.
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Among authors: vilarinho s, vilarinho l. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS, Nogueira C, Pereira C, Janeiro P, Ferreira S, Lourenço CM, Bandeira A, Martins E, Magalhães M, Rodrigues E, Santos H, Ferreira AC, Vilarinho L. Baldo MS, et al. Among authors: vilarinho l. Genes (Basel). 2023 Jul 27;14(8):1536. doi: 10.3390/genes14081536. Genes (Basel). 2023. PMID: 37628588 Free PMC article.
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E. Ferreira M, et al. Among authors: vilarinho l. Neurogenetics. 2011 Feb;12(1):9-17. doi: 10.1007/s10048-010-0265-2. Epub 2011 Jan 4. Neurogenetics. 2011. PMID: 21203893
176 results