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EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Machado Joseph-Disease Is Rare in the Peruvian Population.
Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, Milla-Neyra K, Ortega O, Illanes-Manrique M, Mazzetti P, Manrique-Enciso C, Cubas-Montecino D, Saraiva-Pereira ML, Jardim LB, Sarapura-Castro E. Cornejo-Olivas M, et al. Among authors: saraiva pereira ml. Cerebellum. 2023 Dec;22(6):1192-1199. doi: 10.1007/s12311-022-01491-4. Epub 2022 Nov 3. Cerebellum. 2023. PMID: 36323979
The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD.
de Oliveira CM, Leotti VB, Polita S, Anes M, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Duarte JA, Saraiva-Pereira ML, Junior MCF, Rezende TJR, Jardim LB. de Oliveira CM, et al. Among authors: saraiva pereira ml. J Neurol. 2023 Sep;270(9):4276-4287. doi: 10.1007/s00415-023-11763-6. Epub 2023 May 16. J Neurol. 2023. PMID: 37193796 Free PMC article.
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. 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.
122 results