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2005 1
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2020 1
2021 2
2024 0

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Page 1
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V, Valle DD, Telles BA, Robinson AJ, Monteiro V, Santos MLSF, Souza RLR, Benincá C. Zanette V, et al. Among authors: santos mlsf. Genet Mol Biol. 2021 Nov 19;44(4):e20210149. doi: 10.1590/1678-4685-GMB-2021-0149. eCollection 2021. Genet Mol Biol. 2021. PMID: 34807224 Free PMC article.
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, Whitworth AJ, Zeviani M. Benincá C, et al. Among authors: s f santos ml. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439808 Free PMC article.
MELAS: clinical features, muscle biopsy and molecular genetics.
Lorenzoni PJ, Scola RH, Kay CS, Arndt RC, Freund AA, Bruck I, Santos ML, Werneck LC. Lorenzoni PJ, et al. Among authors: santos ml. Arq Neuropsiquiatr. 2009 Sep;67(3A):668-76. doi: 10.1590/s0004-282x2009000400018. Arq Neuropsiquiatr. 2009. PMID: 19722047 Free article.
Status Dystonicus: study of five cases.
Teive HA, Munhoz RP, Souza MM, Antoniuk SA, Santos ML, Teixeira MJ, Barbosa ER, Carvalho RC, Scaff M, Werneck LC. Teive HA, et al. Among authors: santos ml. Arq Neuropsiquiatr. 2005 Mar;63(1):26-9. doi: 10.1590/s0004-282x2005000100005. Epub 2005 Apr 13. Arq Neuropsiquiatr. 2005. PMID: 15830060 Free article.
Griscelli syndrome and electroencephalography pattern.
Vieira-Karuta SC, Silva IC, Almeida NA, Noronha Ld, Santos ML, Liberalesso PB. Vieira-Karuta SC, et al. Among authors: santos ml. Arq Neuropsiquiatr. 2008 Jun;66(2B):420-2. doi: 10.1590/s0004-282x2008000300030. Arq Neuropsiquiatr. 2008. PMID: 18641887 Free article. No abstract available.