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Mostrar 9-19 de um total de 19 resultados. < anterior 
DataTítuloAutor(es)TipoAcesso
Nov-2003Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practiceCosta, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al.ArtigoAcesso aberto
Nov-2008Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutantAlonso, Isabel; Marques, Joana M.; Sousa, Nuno, et al.ArtigoAcesso aberto
Nov-2007NEDD8: a new ataxin-3 interactorFerro, Anabela; Carvalho, Ana Luísa; Castro, Andreia Cristiana Teixeira, et al.ArtigoAcesso aberto
Ago-2005Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementMaciel, P.; Cruz, V. T.; Constante, M., et al.ArtigoAcesso aberto
2005Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaCosta, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al.ArtigoAcesso aberto
2005Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalLima, M.; Costa, Maria do Carmo; Montiel, R., et al.ArtigoAcesso aberto
Jan-2011Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al.ArtigoAcesso aberto
Mar-2012Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArtigoAcesso aberto
Dez-2011The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph diseaseBettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArtigoAcesso aberto
2008The C677T polymorphism in MTHFR is not associated with migraine in PortugalFerro, Anabela; Castro, Maria-José; Lemos, Carolina, et al.ArtigoAcesso aberto
2003A whole genome screen for association with multiple sclerosis in portuguese patientsSantos, M.; Pinto-Basto, J.; Rio, M. E., et al.ArtigoAcesso aberto