%0 Journal Article %J Brain and Development %D 2011 %T Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes %A Temudo, T. %A Santos, M. %A Ramos, E. %A Dias, K. %A Vieira, J.P. %A Moreira, A. %A Calado, E. %A Carrilho, I. %A Oliveira, G. %A Levy, A. %A Barbot, C. %A Fonseca, M. %A Cabral, A. %A Cabral, P. %A Monteiro, J. %A Borges, L. %A Gomes, R. %A Mira, G. %A Aires Pereira, S. %A Santos, M. %A Fernandes, A. %A Epplen, J.T. %A Sequeiros, J. %A MacIel, P. %B Brain and Development %V 33 %P 69 - 76 %8 2011/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-78650306582&partnerID=40&md5=dbee11e58af80969218350cb4b562c2e %N 1 %0 Journal Article %J Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria %D 2010 %T Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention %A Prior, C. %A Nunes, A. %A Rios, M. %A Sequeiros, J. %A MacIel, P. %A Gomes, L. %A Temudo, T. %B Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria %V 72 %P 191 - 198 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77649338952&partnerID=40&md5=a16542d86e0b0543c9456be38813f666 %N 3 %0 Journal Article %J Brain and Development %D 2009 %T Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment %A Temudo, T. %A Rios, M. %A Prior, C. %A Carrilho, I. %A Santos, M. %A MacIel, P. %A Sequeiros, J. %A Fonseca, M. %A Monteiro, J. %A Cabral, P. %A Vieira, J.P. %A Ormazabal, A. %A Artuch, R. %B Brain and Development %V 31 %P 46 - 51 %8 2009/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-57449115631&partnerID=40&md5=84a65ee3ca73a97950bf095add3212c3 %N 1 %0 Journal Article %J Movement Disorders %D 2008 %T Atypical stereotypies and vocal ties in rett syndrome: An illustrative case %A Temudo, T. %A Freitas, P. %A Sequeiros, J. %A MacIel, P. %A Oliveira, G. %B Movement Disorders %V 23 %P 622 - 623 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-47549087563&partnerID=40&md5=226abf908302634a938b88150d91c306 %N 4 %0 Journal Article %J Movement Disorders %D 2008 %T Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type %A Temudo, T. %A Ramos, E. %A Dias, K. %A Barbot, C. %A Vieira, J.P. %A Moreira, A. %A Calado, E. %A Carrilho, I. %A Oliveira, G. %A Levy, A. %A Fonseca, M. %A Cabral, A. %A Cabral, P. %A Monteiro, J.P. %A Borges, L. %A Gomes, R. %A Santos, M. %A Sequeiros, J. %A MacIel, P. %B Movement Disorders %V 23 %P 1384 - 1390 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-52649103043&partnerID=40&md5=d7e37f8c43efc09b74fd9f58f22875e5 %N 10 %0 Journal Article %J Clinical Genetics %D 2008 %T Two novel functional mutations in the Na+, K+ -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes %A Castro, M.-J. %A Nunes, B. %A De Vries, B. %A Lemos, C. %A Vanmolkot, K.R.J. %A van den Heuvel, J.J.M.W. %A Temudo, T. %A Barros, J. %A Sequeiros, J. %A Frants, R.R. %A Koenderink, J.B. %A Pereira-Monteiro, J.M. %A Van Den Maagdenberg, A.M.J.M. %B Clinical Genetics %V 73 %P 37 - 43 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-37249054940&partnerID=40&md5=6055c7b55b228f690bfdb995bbe636ee %N 1 %0 Journal Article %J Movement Disorders %D 2007 %T Abnormal movements in rett syndrome are present before the regression period: A case study %A Temudo, T. %A MacIel, P. %A Sequeiros, J. %B Movement Disorders %V 22 %P 2284 - 2287 %8 2007/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-38049016457&partnerID=40&md5=49e3655e366e46b8bbc6d782124670eb %N 15 %0 Journal Article %J Neurology %D 2007 %T Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations %A Temudo, T. %A Oliveira, P. %A Santos, M. %A Dias, K. %A Vieira, J. %A Moreira, A. %A Calado, E. %A Carrilho, I. %A Oliveira, G. %A Levy, A. %A Barbot, C. %A Fonseca, M. %A Cabral, A. %A Dias, A. %A Cabral, P. %A Monteiro, J. %A Borges, L. %A Gomes, R. %A Barbosa, C. %A Mira, G. %A Eusébio, F. %A Santos, M. %A Sequeiros, J. %A MacIel, P. %B Neurology %V 68 %P 1183 - 1187 %8 2007/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-34247264830&partnerID=40&md5=82d94170bb8d59e9ca4badd695d2b384 %N 15