%0 Journal Article %J European Journal of Neurology %D 2017 %T Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil %A Gheno, T.C. %A Furtado, G.V. %A Saute, J.A.M. %A Donis, K.C. %A Fontanari, A.M.V. %A Emmel, V.E. %A Pedroso, J.L. %A Barsottini, O. %A Godeiro-Junior, C. %A van der Linden, H. %A Ternes Pereira, E. %A Cintra, V.P. %A Marques, W. %A de Castilhos, R.M. %A Alonso, I. %A Sequeiros, J. %A Cornejo-Olivas, M. %A Mazzetti, P. %A Leotti, V.B. %A Jardim, L.B. %A Saraiva-Pereira, M.L. %B European Journal of Neurology %V 24 %P 892 - e36 %8 2017 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-85019672148&doi=10.1111%2fene.13281&partnerID=40&md5=73fa63f802fb2d0e9e9a533fa3674c4f %N 7 %0 Journal Article %J Gene %D 2013 %T Screening of high-risk Gaucher disease patients using dried blood spots techniques %A Vairo, F. %A Netto, C. %A Tirelli, K.M. %A Siebert, M. %A Burin, M. %A Saraiva-Pereira, M.L. %A Balreira, A. %A Sá Miranda, M.C. %A Lukacs, Z. %A Schwartz, I.V.D. %B Gene %V 523 %P 114 - 115 %8 2013 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84877825392&partnerID=40&md5=38fb9dd20bf97edae46b6b6bbb86cd76 %N 1 %0 Journal Article %J Parkinsonism and Related Disorders %D 2012 %T Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 %A Siebert, M. %A Donis, K.C. %A Socal, M. %A Rieder, C.R.M. %A Emmel, V.E. %A Vairo, F. %A Michelin-Tirelli, K. %A França, M. %A D'Abreu, A.C. %A Bettencourt, C. %A Lima, M. %A Lopes Cendes, I. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %B Parkinsonism and Related Disorders %V 18 %P 185 - 190 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84856234407&partnerID=40&md5=3ba8eb0d7b18d31a56a0719d72aab0fc %N 2 %0 Journal Article %J Cerebellum %D 2012 %T Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3) %A Bettencourt, C. %A Raposo, M. %A Kazachkova, N. %A Santos, C. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Donis, K.C. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Sequeiros, J. %A Bruges-Armas, J. %A Lima, M. %B Cerebellum %V 11 %P 1045 - 1050 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84870454416&partnerID=40&md5=98c726270b929335be073366fd3cd394 %N 4 %0 Journal Article %J Archives of Neurology %D 2011 %T The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease %A Bettencourt, C. %A Raposo, M. %A Kazachkova, N. %A Cymbron, T. %A Santos, C. %A Kay, T. %A Vasconcelos, J. %A MacIel, P. %A Donis, K.C. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Sequeiros, J. %A Lima, M. %B Archives of Neurology %V 68 %P 1580 - 1583 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-83455217478&partnerID=40&md5=390b4f6ea81bf9b7663fa45be23d8c73 %N 12 %0 Journal Article %J Clinical Genetics %D 2011 %T Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? %A Emmel, V.E. %A Alonso, I. %A Jardim, L.B. %A Saraiva-Pereira, M.L. %A Sequeiros, J. %B Clinical Genetics %V 79 %P 100 - 102 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-78650010388&partnerID=40&md5=69ab709285de64e581228fd1848c5c6c %N 1 %0 Journal Article %J American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics %D 2010 %T Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2) %A Ramos, E.M. %A Martins, S. %A Alonso, I. %A Emmel, V.E. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Coutinho, P. %A Sequeiros, J. %A Silveira, I. %B American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics %V 153 %P 524 - 531 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77349087351&partnerID=40&md5=bde1fb216daf4d250e900def52a9f35e %N 2 %0 Journal Article %J PLoS ONE %D 2009 %T Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) %A Almeida, T. %A Alonso, I. %A Martins, S. %A Ramos, E.M. %A Azevedo, L. %A Ohno, K. %A Amorim, A. %A Saraiva-Pereira, M.L. %A Jardim, L.B. %A Matsuura, T. %A Sequeiros, J. %A Silveira, I. %B PLoS ONE %V 4 %8 2009/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-62349092631&partnerID=40&md5=c8b9608dcf3e879b501d34e20b01be07 %N 2 %0 Journal Article %J Annals of Human Genetics %D 2008 %T Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population %A Prestes, P.R. %A Saraiva-Pereira, M.L. %A Silveira, I. %A Sequeiros, J. %A Jardim, L.B. %B Annals of Human Genetics %V 72 %P 57 - 64 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-37849028591&partnerID=40&md5=c6e066c3562128930c57afb0a649f124 %N 1 %0 Journal Article %J Community Genetics %D 2006 %T Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives %A Cecchin, C.R. %A Pires, A.P. %A Rieder, C.R. %A Monte, T.L. %A Silveira, I. %A Carvalho, T. %A Saraiva-Pereira, M.L. %A Sequeiros, J. %A Jardim, L.B. %B Community Genetics %V 10 %P 19 - 26 %8 2006/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33845774797&partnerID=40&md5=48077dbfdd40e308e28baecd5165f272 %N 1 %0 Journal Article %J Neurology %D 2006 %T Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 %A Alonso, I. %A Jardim, L.B. %A Artigalas, O. %A Saraiva-Pereira, M.L. %A Matsuura, T. %A Ashizawa, T. %A Sequeiros, J. %A Silveira, I. %B Neurology %V 66 %P 1602 - 1604 %8 2006/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33745373901&partnerID=40&md5=087d4c80f899d3cf338536ce9df81f9d %N 10 %0 Journal Article %J Clinical Genetics %D 2006 %T Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3] %A Trott, A. %A Jardim, L.B. %A Ludwig, H.T. %A Saute, J.A.M. %A Artigalás, O. %A Kieling, C. %A Wanderley, H.Y.C. %A Rieder, C.R.M. %A Monte, T.L. %A Socal, M. %A Alonso, I. %A Ferro, A. %A Carvalho, T. %A do Céu Moreira, M. %A Mendonça, P. %A Ferreirinha, F. %A Silveira, I. %A Sequeiros, J. %A Giugliani, R. %A Saraiva-Pereira, M.L. %B Clinical Genetics %V 70 %P 173 - 176 %8 2006/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33745827039&partnerID=40&md5=de22af828de5b88d785286755acdfa57 %N 2