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TITLE: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy A Rouleau; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 54
IN MY: ORCID
92
TITLE: Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
AUTHORS: Cecchin, CR; Pires, AP; Rieder, CR; Monte, TL; Silveira, I ; Carvalho, T; Saraiva Pereira, ML; Sequeiros, J ; Jardim, LB;
PUBLISHED: 2007, SOURCE: COMMUNITY GENETICS, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
93
94
TITLE: NEDD8: A new ataxin-3 interactor  Full Text
AUTHORS: Anabela Ferro; Ana Luisa Carvalho ; Andrela Teixeira Castro ; Carla Almeida; Ricardo J Tome; Luisa Cortes ; Ana Joao Rodrigues ; Elsa Logarinho ; Jorge Sequeiros ; Sandra Macedo Ribeiro ; Patricia Maciel ;
PUBLISHED: 2007, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1773, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 51
IN MY: ORCID
95
TITLE: Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba  Full Text
AUTHORS: Paneque, M ; Lemos, C ; Escalona, K; Prieto, L; Reynaldo, R; Velazquez, M; Quevedo, J; Santos, N; Almaguer, LE; Velazquez, L; Sousa, A ; Fleming, M; Sequeiros, J ;
PUBLISHED: 2007, SOURCE: Journal of Genetic Counseling, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus CrossRef: 11
IN MY: ORCID
96
TITLE: Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine  Full Text
AUTHORS: Maria Jose Castro; Anine H Stam; Carolina Lemos ; Barros, José ; Raquel G Gouveia; Isabel Pavao Martins ; Jan B Koenderink; Kaate R J Vanmolkot; Alexandre P Mendes; Rune R Frants; Michel D Ferrari; Jorge Sequeiros ; Jose M Pereira Monteiro ; Arn M J M van den Maagdenberg;
PUBLISHED: 2007, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 52, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
97
TITLE: Report of an international survey of molecular genetic testing laboratories
AUTHORS: Margaret M McGovern; Rob Elles; Isabella Beretta; Martin J Somerville; Gerald Hoefler; Mauri Keinanen; David Barton; Nancy Carson; Elisabeth Dequeker; Radim Brdicka; Alena Blazkova; Segolene Ayme; Birgit Schnieders; Clemens R Mueller; Vibeke Dalen; Armando Albert Martinez; Ulf Kristoffersson; Meral Ozguc; Hansjakob Mueller; Joe Boone; Ira M Lubin; Jorge Sequeiros ; Domenica Taruscios; Bob Williamson; Lynn Mainland; Hiroshi Yoshikura; Elettra Ronchi; ...More
PUBLISHED: 2007, SOURCE: COMMUNITY GENETICS, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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98
TITLE: Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
AUTHORS: Temudo, T; Oliveira, P ; Santos, M; Dias, K; Vieira, J; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Barbot, C ; Fonseca, M; Cabral, A; Dias, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Barbosa, C; Mira, G; Eusebio, F; Santos, M; Sequeiros, J ; Maciel, P ; ...More
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef
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99
TITLE: A high throughput mutation screen of human ion channel genes in episodic neurological disorders  Full Text
AUTHORS: Ronald Lafreniere; F Poulin; Simoneau, M; Gupta, N; Lafreniere, F; Boisvert, K; Anton, A; McLaughlan Edwards, S; Albanese, M; Charles, MK; Laurent, S; Ebers, G; Cader, Z; Sequeiros, J ; Pereira M P Monteiro; Turecki, G; Alda, M; Grof, P; Chouinard, S; Brais, B; Cossette, P; Rouleau, GA; ...More
PUBLISHED: 2006, SOURCE: 14th World Congress on Psychiatric Genetics in AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 141B, ISSUE: 7
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100
TITLE: A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus  Full Text
AUTHORS: Sandra Martins ; Francesc Calafell; Virginia C N Wong; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 14, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
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