%0 Journal Article %J JAMA Neurology %D 2013 %T Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey %A Loureiro, J.L. %A Brandão, E. %A Ruano, L. %A Brandão, A.F. %A Lopes, A. M. %A Thieleke-Matos, C. %A Miller-Fleming, L. %A Cruz, V.T. %A Barbosa, M. %A Silveira, I. %A Stevanin, G. %A Pinto-Basto, J. %A Sequeiros, J. %A Alonso, I. %A Coutinho, P. %B JAMA Neurology %V 70 %P 481 - 487 %8 2013 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84876133160&partnerID=40&md5=f118e6988d2a0ce5c8565bd43234fba0 %N 4 %0 Journal Article %J Genetics in Medicine %D 2012 %T Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations %A Conceiço Pereira, M. %A Loureiro, J.L. %A Pinto-Basto, J. %A Brando, E. %A Margarida Lopes, A. %A Neves, G. %A Dias, P. %A Geraldes, R. %A Martins, I.P. %A Cruz, V.T. %A Kamsteeg, E.-J. %A Brunner, H.G. %A Coutinho, P. %A Sequeiros, J. %A Alonso, I. %B Genetics in Medicine %V 14 %P 143 - 151 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84855558170&partnerID=40&md5=cebfb723707752898768ab723a34f364 %N 1 %0 Journal Article %J Movement Disorders %D 2012 %T Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions %A Ramos, E.M. %A Cerqueira, J. %A Lemos, C. %A Pinto-Basto, J. %A Alonso, I. %A Sequeiros, J. %B Movement Disorders %V 27 %P 583 - 585 %8 2012/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84859436267&partnerID=40&md5=46d46683e6e658d82ca3bca14c1e929d %N 4 %0 Journal Article %J Clinical Genetics %D 2011 %T Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population %A Barbosa, M. %A Sousa, A. %A Medeira, A. %A Lourenço, T. %A Saraiva, J. %A Pinto-Basto, J. %A Soares, G. %A Fortuna, A. %A Superti-Furga, A. %A Mittaz, L. %A Reis-Lima, M. %A Bonafé, L. %B Clinical Genetics %V 80 %P 550 - 557 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-80054934970&partnerID=40&md5=44f70ded09fdf4051e61048a1cf9f1fc %N 6 %0 Journal Article %J Behavioral and Brain Functions %D 2011 %T FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes %A Seixas, A.I. %A Vale, J. %A Jorge, P. %A Marques, I. %A Santos, R. %A Alonso, I. %A Fortuna, A.M. %A Pinto-Basto, J. %A Coutinho, P. %A Margolis, R.L. %A Sequeiros, J. %A Silveira, I. %B Behavioral and Brain Functions %V 7 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-79957829884&partnerID=40&md5=2be467541a40dac8980e300ecb23245a %0 Journal Article %J Clinical Genetics %D 2010 %T Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population %A Sequeiros, J. %A Ramos, E.M. %A Cerqueira, J. %A Costa, M.C. %A Sousa, A. %A Pinto-Basto, J. %A Alonso, I. %B Clinical Genetics %V 78 %P 381 - 387 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099&partnerID=40&md5=49d07a08a3970dcd0cba57cb2e76bfeb %N 4 %0 Journal Article %J Journal of Bone and Mineral Research %D 2010 %T Osteopathia striata with cranial sclerosis owing to WTX gene defect %A Perdu, B. %A De Freitas, F. %A Frints, S.G.M. %A Schouten, M. %A Schrander-Stumpel, C. %A Barbosa, M. %A Pinto-Basto, J. %A Reis-Lima, M. %A De Vernejoul, M.-C. %A Becker, K. %A Freckmann, M.-L. %A Keymolen, K. %A Haan, E. %A Savarirayan, R. %A Koenig, R. %A Zabel, B. %A Vanhoenacker, F.M. %A Van Hul, W. %B Journal of Bone and Mineral Research %V 25 %P 82 - 90 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77953426562&partnerID=40&md5=fe75f43e2472dda1a65d2dc9fb5d5b1e %N 1 %0 Journal Article %J Journal of the Neurological Sciences %D 2010 %T Sensory neuronopathy in ataxia with oculomotor apraxia type 2 %A Gazulla, J. %A Benavente, I. %A López-Fraile, I.P. %A Tordesillas, C. %A Modrego, P. %A Alonso, I. %A Pinto-Basto, J. %B Journal of the Neurological Sciences %V 298 %P 118 - 120 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77958153343&partnerID=40&md5=80f8c56e6db4b5802c4d210cca4486cd %N 1-2 %0 Journal Article %J Multiple Sclerosis %D 2004 %T Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin %A Santos, M. %A do Carmo Costa, M. %A Edite Rio, M. %A José Sá, M. %A Monteiro, M. %A Valença, A. %A Sá, A. %A Dinis, J. %A Figueiredo, J. %A Bigotte de Almeida, L. %A Valongueiro, A. %A Coelho, I. %A Matamá, M.T. %A Pinto-Basto, J. %A Sequeiros, J. %A MacIel, P. %B Multiple Sclerosis %V 10 %P 153 - 157 %8 2004/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-16544363161&partnerID=40&md5=c253151ad588e300b9bf28509d41d4d1 %N 2