TY - JOUR T1 - A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia JF - American Journal of Human Genetics Y1 - 2017 A1 - Seixas, A.I. A1 - Loureiro, J.R. A1 - Costa, C. A1 - Ordóñez-Ugalde, A. A1 - Marcelino, H. A1 - Oliveira, C.L. A1 - Loureiro, J.L. A1 - Dhingra, A. A1 - Brandão, E. A1 - Cruz, V.T. A1 - Timóteo, A. A1 - Quintáns, B. A1 - Rouleau, G.A. A1 - Rizzu, P. A1 - Carracedo, A. A1 - Bessa, J. A1 - Heutink, P. A1 - Sequeiros, J. A1 - Sobrido, M.J. A1 - Coutinho, P. A1 - Silveira, I. VL - 101 UR - https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021415706&doi=10.1016%2fj.ajhg.2017.06.007&partnerID=40&md5=84985cdc99a86734726baafd72a2cdc3 IS - 1 N1 - Cited By :2Export Date: 19 March 2018 ER - TY - JOUR T1 - 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization JF - Brain Y1 - 2012 A1 - García-Murias, M. A1 - Quintáns, B. A1 - Arias, M. A1 - Seixas, A.I. A1 - Cacheiro, P. A1 - Tarrío, R. A1 - Pardo, J. A1 - Millán, M. J. A1 - Arias-Rivas, S. A1 - Blanco-Arias, P. A1 - Dapena, D. A1 - Moreira, R. A1 - Rodríguez-Trelles, F. A1 - Sequeiros, J. A1 - Carracedo, A. A1 - Silveira, I. A1 - Sobrido, M. J. VL - 135 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84860608331&partnerID=40&md5=69fbec9a4cf46680a5fc7a003f7a82f9 IS - 5 N1 - Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis JF - Annals of Neurology Y1 - 2012 A1 - Seixas, A.I. A1 - Holmes, S.E. A1 - Takeshima, H. A1 - Pavlovich, A. A1 - Sachs, N. A1 - Pruitt, J. L. A1 - Silveira, I. A1 - Ross, C.A. A1 - Margolis, R.L. A1 - Rudnicki, D. D. VL - 71 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84857520653&partnerID=40&md5=d5662606f1fa602e818eb9b20884abaf IS - 2 N1 - Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes JF - Behavioral and Brain Functions Y1 - 2011 A1 - Seixas, A.I. A1 - Vale, J. A1 - Jorge, P. A1 - Marques, I. A1 - Santos, R. A1 - Alonso, I. A1 - Fortuna, A.M. A1 - Pinto-Basto, J. A1 - Coutinho, P. A1 - Margolis, R.L. A1 - Sequeiros, J. A1 - Silveira, I. VL - 7 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-79957829884&partnerID=40&md5=2be467541a40dac8980e300ecb23245a N1 - Export Date: 18 March 2013Source: ScopusArt. No.: 19 ER - TY - JOUR T1 - A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array JF - Human Genetics Y1 - 2006 A1 - Holmes, S.E. A1 - Wentzell, J.S. A1 - Seixas, A.I. A1 - Callahan, C. A1 - Silveira, I. A1 - Ross, C.A. A1 - Margolis, R.L. VL - 120 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-33747014342&partnerID=40&md5=8a2550a68049cb933a76a8f7dbd13268 IS - 2 N1 - Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - FXTAS, SCA10, and SCA17 in American patients with movement disorders [1] JF - American Journal of Medical Genetics Y1 - 2005 A1 - Seixas, A.I. A1 - Maurer, M.H. A1 - Lin, M. A1 - Callahan, C. A1 - Ahuja, A. A1 - Matsuura, T. A1 - Ross, C.A. A1 - Hisama, F.M. A1 - Silveira, I. A1 - Margolis, R.L. VL - 136 A UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-21644486998&partnerID=40&md5=be44c3f11c9988a6f826c7e0dc731cdb IS - 1 N1 - Cited By (since 1996): 19Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Haplotype diversity and somatic instability in normal and expanded SCA8 alleles JF - American Journal of Medical Genetics - Neuropsychiatric Genetics Y1 - 2005 A1 - Martins, S. A1 - Seixas, A.I. A1 - Magalhães, P. A1 - Coutinho, P. A1 - Sequeiros, J. A1 - Silveira, I. VL - 139 B UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-27644506104&partnerID=40&md5=9f6d5bca13ae59b20f3a8f8a0d1f02f5 IS - 1 N1 - Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14 JF - Journal of Human Genetics Y1 - 2005 A1 - Alonso, I. A1 - Costa, C. A1 - Gomes, A. A1 - Ferro, A. A1 - Seixas, A.I. A1 - Silva, S. A1 - Cruz, V.T. A1 - Coutinho, P. A1 - Sequeiros, J. A1 - Silveira, I. VL - 50 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-27644562111&partnerID=40&md5=240f114c28312907498c1576c7a34fd9 IS - 10 N1 - Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus ER -