@article {4744, title = {Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey}, journal = {JAMA Neurology}, volume = {70}, year = {2013}, note = {Cited By (since 1996):1Export Date: 8 April 2014Source: Scopus}, month = {2013}, pages = {481 - 487}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84876133160\&partnerID=40\&md5=f118e6988d2a0ce5c8565bd43234fba0}, author = {Loureiro, J.L. and Brand{\~a}o, E. and Ruano, L. and Brand{\~a}o, A.F. and Lopes, A. M. and Thieleke-Matos, C. and Miller-Fleming, L. and Cruz, V.T. and Barbosa, M. and Silveira, I. and Stevanin, G. and Pinto-Basto, J. and Sequeiros, J. and Alonso, I. and Coutinho, P.} } @article {3007, title = {Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations}, journal = {Genetics in Medicine}, volume = {14}, year = {2012}, note = {Export Date: 18 March 2013Source: Scopus}, month = {2012///}, pages = {143 - 151}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84855558170\&partnerID=40\&md5=cebfb723707752898768ab723a34f364}, author = {Concei{\c c}o Pereira, M. and Loureiro, J.L. and Pinto-Basto, J. and Brando, E. and Margarida Lopes, A. and Neves, G. and Dias, P. and Geraldes, R. and Martins, I.P. and Cruz, V.T. and Kamsteeg, E.-J. and Brunner, H.G. and Coutinho, P. and Sequeiros, J. and Alonso, I.} } @article {2960, title = {Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions}, journal = {Movement Disorders}, volume = {27}, year = {2012}, note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus}, month = {2012///}, pages = {583 - 585}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84859436267\&partnerID=40\&md5=46d46683e6e658d82ca3bca14c1e929d}, author = {Ramos, E.M. and Cerqueira, J. and Lemos, C. and Pinto-Basto, J. and Alonso, I. and Sequeiros, J.} } @article {3020, title = {Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population}, journal = {Clinical Genetics}, volume = {80}, year = {2011}, note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus}, month = {2011///}, pages = {550 - 557}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-80054934970\&partnerID=40\&md5=44f70ded09fdf4051e61048a1cf9f1fc}, author = {Barbosa, M. and Sousa, A. and Medeira, A. and Louren{\c c}o, T. and Saraiva, J. and Pinto-Basto, J. and Soares, G. and Fortuna, A. and Superti-Furga, A. and Mittaz, L. and Reis-Lima, M. and Bonaf{\'e}, L.} } @article {3111, title = {FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes}, journal = {Behavioral and Brain Functions}, volume = {7}, year = {2011}, note = {Export Date: 18 March 2013Source: ScopusArt. No.: 19}, month = {2011///}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79957829884\&partnerID=40\&md5=2be467541a40dac8980e300ecb23245a}, author = {Seixas, A.I. and Vale, J. and Jorge, P. and Marques, I. and Santos, R. and Alonso, I. and Fortuna, A.M. and Pinto-Basto, J. and Coutinho, P. and Margolis, R.L. and Sequeiros, J. and Silveira, I.} } @article {3252, title = {Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population}, journal = {Clinical Genetics}, volume = {78}, year = {2010}, note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus}, month = {2010///}, pages = {381 - 387}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099\&partnerID=40\&md5=49d07a08a3970dcd0cba57cb2e76bfeb}, author = {Sequeiros, J. and Ramos, E.M. and Cerqueira, J. and Costa, M.C. and Sousa, A. and Pinto-Basto, J. and Alonso, I.} } @article {3376, title = {Osteopathia striata with cranial sclerosis owing to WTX gene defect}, journal = {Journal of Bone and Mineral Research}, volume = {25}, year = {2010}, note = {Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus}, month = {2010///}, pages = {82 - 90}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77953426562\&partnerID=40\&md5=fe75f43e2472dda1a65d2dc9fb5d5b1e}, author = {Perdu, B. and De Freitas, F. and Frints, S.G.M. and Schouten, M. and Schrander-Stumpel, C. and Barbosa, M. and Pinto-Basto, J. and Reis-Lima, M. and De Vernejoul, M.-C. and Becker, K. and Freckmann, M.-L. and Keymolen, K. and Haan, E. and Savarirayan, R. and Koenig, R. and Zabel, B. and Vanhoenacker, F.M. and Van Hul, W.} } @article {3223, title = {Sensory neuronopathy in ataxia with oculomotor apraxia type 2}, journal = {Journal of the Neurological Sciences}, volume = {298}, year = {2010}, note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus}, month = {2010///}, pages = {118 - 120}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77958153343\&partnerID=40\&md5=80f8c56e6db4b5802c4d210cca4486cd}, author = {Gazulla, J. and Benavente, I. and L{\'o}pez-Fraile, I.P. and Tordesillas, C. and Modrego, P. and Alonso, I. and Pinto-Basto, J.} } @article {4319, title = {Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin}, journal = {Multiple Sclerosis}, volume = {10}, year = {2004}, note = {Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus}, month = {2004///}, pages = {153 - 157}, url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-16544363161\&partnerID=40\&md5=c253151ad588e300b9bf28509d41d4d1}, author = {Santos, M. and do Carmo Costa, M. and Edite Rio, M. and Jos{\'e} S{\'a}, M. and Monteiro, M. and Valen{\c c}a, A. and S{\'a}, A. and Dinis, J. and Figueiredo, J. and Bigotte de Almeida, L. and Valongueiro, A. and Coelho, I. and Matam{\'a}, M.T. and Pinto-Basto, J. and Sequeiros, J. and MacIel, P.} }