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Implication of abnormal epigenetic patterns for human diseases.
Santos-Rebouças CB, Pimentel MM. Santos-Rebouças CB, et al. Among authors: pimentel mm. Eur J Hum Genet. 2007 Jan;15(1):10-7. doi: 10.1038/sj.ejhg.5201727. Epub 2006 Oct 18. Eur J Hum Genet. 2007. PMID: 17047674 Review.
Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.
Pimentel MM, Rodrigues FC, Leite MA, Campos Júnior M, Rosso AL, Nicaretta DH, Pereira JS, Silva DJ, Della Coletta MV, Vasconcellos LF, Abreu GM, Dos Santos JM, Santos-Rebouças CB. Pimentel MM, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):586-9. doi: 10.1016/j.parkreldis.2015.03.011. Epub 2015 Mar 14. Parkinsonism Relat Disord. 2015. PMID: 25817515
Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.
Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM. Abreu GM, et al. Among authors: pimentel mm. Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21. Neurosci Lett. 2016. PMID: 27777137
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.
da Silva CP, de M Abreu G, Cabello Acero PH, Campos M Júnior, Pereira JS, de A Ramos SR, Nascimento CM, Voigt DD, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Nicaretta DH, Della Coletta MV, da Silva DJ, Gonçalves AP, Dos Santos JM, Calassara V, Valença DCT, de M Martins CJ, Santos-Rebouças CB, Pimentel MMG. da Silva CP, et al. J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24. J Neurol Sci. 2017. PMID: 28991672
72 results