António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Confirmed Publications: 238



81
TITLE: Huntington disease-like 2: the first patient with apparent European ancestry  Full Text
AUTHORS: Santos, C; Wanderley, H; Vedolin, L; D. J. Pena; Jardim, L; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
82
TITLE: Huntington's disease and Huntington-like phenotype: 10 years of local molecular diagnostic experience
AUTHORS: Santos, C; Cerqueira, J; Magalhaes, P; Costa, MC; Jardim, L; Costa, C; Cruz, V ; Coutinho, P; Maciel, P; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 79
INDEXED IN: WOS
83
TITLE: Machado-joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population  Full Text
AUTHORS: Prestes, PR; Saraiva Pereira, ML; Silveira, I ; Sequeiros, J ; Jardim, LB;
PUBLISHED: 2008, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 72, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
84
85
TITLE: Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type  Full Text
AUTHORS: Teresa Temudo; Elisabete Ramos ; Karin Dias; Clara Barbot ; Jose P Vieira; Ana Moreira; Eulalia Calado; Ines Carrilho; Guiomar Oliveira ; Antonio Levy; Maria Fonseca; Alexandra Cabral; Pedro Cabral; Joao P Monteiro; Luis Borges; Roseli Gomes; Manuela Santos; Jorge Sequeiros ; Patricia Maciel ;
PUBLISHED: 2008, SOURCE: MOVEMENT DISORDERS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 61
IN MY: ORCID
86
TITLE: Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives  Full Text
AUTHORS: Elina Rantanen; Marja Hietala; Ulf Kristoffersson; Irmgard Nippert; Jorg Schmidtke; Jorge Sequeiros ; Helena Kaariainen;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
87
TITLE: The C677T polymorphism in MTHFR is not associated with migraine in Portugal  Full Text
AUTHORS: Ferro, A; Castro, MJ; Lemos, C ; Santos, M; Sousa, A ; Pereira Monteiro, J; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2008, SOURCE: DISEASE MARKERS, VOLUME: 25, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
88
TITLE: Two novel functional mutations in the Na+,K+-ATPase alpha 2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes  Full Text
AUTHORS: Castro, MJ; Nunes, B; de Vries, B; Lemos, C ; Vanmolkot, KRJ; van den Heuvel, JJMW; Temudo, T; Barros, J; Sequeiros, J ; Frants, RR; Koenderink, JB; Pereira Monteiro, JM ; van den Maagdenberg, AMJM;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
89
TITLE: What is ideal genetic counselling? A survey of current international guidelines  Full Text
AUTHORS: Elina Rantanen; Marja Hietala; Ulf Kristoffersson; Irmgard Nippert; Joerg Schmidtke; Jorge Sequeiros ; Helena Kaariainen;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
90
TITLE: Abnormal movements in Rett syndrome are present before the regression period: A case study  Full Text
AUTHORS: Teresa Temudo; Patricia Maciel ; Jorge Sequeiros ;
PUBLISHED: 2007, SOURCE: MOVEMENT DISORDERS, VOLUME: 22, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Página 9 de 24. Total de resultados: 238.

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