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Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.
Martins S, Santos MJ, Simões M, Jacinto S, Martins Halpern C, Dupont J, Diogo L, Grazina M. Martins S, et al. Among authors: jacinto s. Endocr Metab Immune Disord Drug Targets. 2023 Oct 4. doi: 10.2174/0118715303273271230928060000. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37817524
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.
Jacinto S, Guerreiro P, de Oliveira RM, Cunha-Oliveira T, Santos MJ, Grazina M, Rego AC, Outeiro TF. Jacinto S, et al. Front Cell Neurosci. 2021 Mar 17;15:641264. doi: 10.3389/fncel.2021.641264. eCollection 2021. Front Cell Neurosci. 2021. PMID: 33815063 Free PMC article.
Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases.
Rebelo M, Pires M, Azurara L, Câmara L, Pereira M, Ribeirinho A, Padeira G, Silva PG, Jacinto S, Vieira JP, Ferreira AC. Rebelo M, et al. Among authors: jacinto s. Endocr Metab Immune Disord Drug Targets. 2023 Oct 18. doi: 10.2174/0118715303279208231012051937. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859320
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Among authors: jacinto s. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
Atypical phenotype in two patients with LAMA2 mutations.
Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T. Marques J, et al. Among authors: jacinto s. Neuromuscul Disord. 2014 May;24(5):419-24. doi: 10.1016/j.nmd.2014.01.004. Epub 2014 Jan 25. Neuromuscul Disord. 2014. PMID: 24534542 Free article.
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sequeira S, Rodrigues M, Jacinto S, Wevers RA, Wortmann SB. Sequeira S, et al. Among authors: jacinto s. Neuropediatrics. 2017 Oct;48(5):382-384. doi: 10.1055/s-0037-1602833. Epub 2017 May 15. Neuropediatrics. 2017. PMID: 28505671 No abstract available.
70 results