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Page 1
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
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.
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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.
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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.
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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.
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