TY - JOUR T1 - Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey JF - JAMA Neurology Y1 - 2013 A1 - Loureiro, J.L. A1 - Brandão, E. A1 - Ruano, L. A1 - Brandão, A.F. A1 - Lopes, A. M. A1 - Thieleke-Matos, C. A1 - Miller-Fleming, L. A1 - Cruz, V.T. A1 - Barbosa, M. A1 - Silveira, I. A1 - Stevanin, G. A1 - Pinto-Basto, J. A1 - Sequeiros, J. A1 - Alonso, I. A1 - Coutinho, P. VL - 70 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-84876133160&partnerID=40&md5=f118e6988d2a0ce5c8565bd43234fba0 IS - 4 N1 - Cited By (since 1996):1Export Date: 8 April 2014Source: Scopus ER - TY - JOUR T1 - Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations JF - Genetics in Medicine Y1 - 2012 A1 - Conceiço Pereira, M. A1 - Loureiro, J.L. A1 - Pinto-Basto, J. A1 - Brando, E. A1 - Margarida Lopes, A. A1 - Neves, G. A1 - Dias, P. A1 - Geraldes, R. A1 - Martins, I.P. A1 - Cruz, V.T. A1 - Kamsteeg, E.-J. A1 - Brunner, H.G. 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A1 - Superti-Furga, A. A1 - Mittaz, L. A1 - Reis-Lima, M. A1 - Bonafé, L. VL - 80 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-80054934970&partnerID=40&md5=44f70ded09fdf4051e61048a1cf9f1fc IS - 6 N1 - Cited By (since 1996): 1Export 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 - Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population JF - Clinical Genetics Y1 - 2010 A1 - Sequeiros, J. A1 - Ramos, E.M. A1 - Cerqueira, J. A1 - Costa, M.C. A1 - Sousa, A. A1 - Pinto-Basto, J. A1 - Alonso, I. VL - 78 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099&partnerID=40&md5=49d07a08a3970dcd0cba57cb2e76bfeb IS - 4 N1 - Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Osteopathia striata with cranial sclerosis owing to WTX gene defect JF - Journal of Bone and Mineral Research Y1 - 2010 A1 - Perdu, B. A1 - De Freitas, F. A1 - Frints, S.G.M. A1 - Schouten, M. A1 - Schrander-Stumpel, C. A1 - Barbosa, M. A1 - Pinto-Basto, J. A1 - Reis-Lima, M. A1 - De Vernejoul, M.-C. A1 - Becker, K. A1 - Freckmann, M.-L. A1 - Keymolen, K. A1 - Haan, E. A1 - Savarirayan, R. A1 - Koenig, R. A1 - Zabel, B. A1 - Vanhoenacker, F.M. A1 - Van Hul, W. VL - 25 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-77953426562&partnerID=40&md5=fe75f43e2472dda1a65d2dc9fb5d5b1e IS - 1 N1 - Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Sensory neuronopathy in ataxia with oculomotor apraxia type 2 JF - Journal of the Neurological Sciences Y1 - 2010 A1 - Gazulla, J. A1 - Benavente, I. A1 - López-Fraile, I.P. A1 - Tordesillas, C. A1 - Modrego, P. A1 - Alonso, I. A1 - Pinto-Basto, J. VL - 298 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-77958153343&partnerID=40&md5=80f8c56e6db4b5802c4d210cca4486cd IS - 1-2 N1 - Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus ER - TY - JOUR T1 - Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin JF - Multiple Sclerosis Y1 - 2004 A1 - Santos, M. A1 - do Carmo Costa, M. A1 - Edite Rio, M. A1 - José Sá, M. A1 - Monteiro, M. A1 - Valença, A. A1 - Sá, A. A1 - Dinis, J. A1 - Figueiredo, J. A1 - Bigotte de Almeida, L. A1 - Valongueiro, A. A1 - Coelho, I. A1 - Matamá, M.T. A1 - Pinto-Basto, J. A1 - Sequeiros, J. A1 - MacIel, P. VL - 10 UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-16544363161&partnerID=40&md5=c253151ad588e300b9bf28509d41d4d1 IS - 2 N1 - Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus ER -