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Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
Campos M Jr, Abdalla CB, Santos-Rebouças CB, dos Santos AV, Pestana CP, Domingues ML, dos Santos JM, Pimentel MM. Campos M Jr, et al. Among authors: santos reboucas cb, dos santos jm, dos santos av. Brain Dev. 2007 Jun;29(5):293-7. doi: 10.1016/j.braindev.2006.09.012. Epub 2006 Nov 3. Brain Dev. 2007. PMID: 17084570
A study of LRRK2 mutations and Parkinson's disease in Brazil.
Pimentel MM, Moura KC, Abdalla CB, Pereira JS, de Rosso AL, Nicaretta DH, Campos M Jr, de Almeida RM, dos Santos JM, Bastos IC, Mendes MF, Maultasch H, Costa FH, Werneck AL, Santos-Rebouças CB. Pimentel MM, et al. Among authors: dos santos jm, santos reboucas cb. Neurosci Lett. 2008 Mar 5;433(1):17-21. doi: 10.1016/j.neulet.2007.12.033. Epub 2007 Dec 23. Neurosci Lett. 2008. PMID: 18201824
Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
Dos Santos AV, Pestana CP, Diniz KR, Campos M, Abdalla-Carvalho CB, de Rosso AL, Pereira JS, Nicaretta DH, de Carvalho WL, Dos Santos JM, Santos-Rebouças CB, Pimentel MM. Dos Santos AV, et al. Among authors: dos santos jm, santos reboucas cb. Neurosci Lett. 2010 Nov 19;485(2):121-4. doi: 10.1016/j.neulet.2010.08.083. Epub 2010 Sep 17. Neurosci Lett. 2010. PMID: 20816920 Free article.
A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.
Campos M Jr, Pestana CP, dos Santos AV, Ponchel F, Churchman S, Abdalla-Carvalho CB, dos Santos JM, dos Santos FL, Gikovate CG, Santos-Rebouças CB, Pimentel MM. Campos M Jr, et al. Among authors: dos santos jm, santos reboucas cb, dos santos av, dos santos fl. Brain Dev. 2011 Nov;33(10):807-9. doi: 10.1016/j.braindev.2011.04.015. Epub 2011 May 19. Brain Dev. 2011. PMID: 21600714
Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.
Guimarães Bde C, Pereira AC, Rodrigues Fda C, dos Santos AV, Campos M Jr, dos Santos JM, dos Santos FL, de Rosso AL, Nicaretta DH, Pereira JS, da Silva DJ, Della Coletta MV, Santos-Rebouças CB, Pimentel MM. Guimarães Bde C, et al. Among authors: dos santos jm, santos reboucas cb, dos santos av, dos santos fl. Parkinsonism Relat Disord. 2012 Jun;18(5):688-9. doi: 10.1016/j.parkreldis.2011.11.028. Epub 2011 Dec 21. Parkinsonism Relat Disord. 2012. PMID: 22192918 No abstract available.
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
Santos-Rebouças CB, de Almeida LG, Belet S, Dos Santos SR, Ribeiro MG, da Silva AF, Medina-Acosta E, Dos Santos JM, Gonçalves AP, Bahia PR, Pimentel MM, Froyen G. Santos-Rebouças CB, et al. Among authors: dos santos jm, dos santos sr. J Hum Genet. 2015 Apr;60(4):207-11. doi: 10.1038/jhg.2015.1. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652354
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. Among authors: dos santos jm, santos reboucas cb. 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
199 results