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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network; Bonifati V. Di Fonzo A, et al. Among authors: socal m. Neurology. 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. Neurology. 2007. PMID: 17485642
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, França M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Siebert M, et al. Among authors: socal m. Parkinsonism Relat Disord. 2012 Feb;18(2):185-90. doi: 10.1016/j.parkreldis.2011.09.024. Epub 2011 Oct 15. Parkinsonism Relat Disord. 2012. PMID: 22001711
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.
Trott A, Jardim LB, Ludwig HT, Saute JA, Artigalás O, Kieling C, Wanderley HY, Rieder CR, Monte TL, Socal M, Alonso I, Ferro A, Carvalho T, do Céu Moreira M, Mendonça P, Ferreirinha F, Silveira I, Sequeiros J, Giugliani R, Saraiva-Pereira ML. Trott A, et al. Among authors: socal m. Clin Genet. 2006 Aug;70(2):173-6. doi: 10.1111/j.1399-0004.2006.00656.x. Clin Genet. 2006. PMID: 16879203 No abstract available.
75 results