201
TITLE: Tagus Valley: an experience of community-based predictive testing in a new large focus of Machado-Joseph disease (MJD) in Portugal  Full Text
AUTHORS: Coutinho, P; Silva, M; Silva, MR; Ledo, S; Rocha, JC ; Barros, José ; Loureiro, JL; Guimaraes, J; Chorao, R; Ribeiro, P; Bettencourt, M; Maciel, P; Silveira, I; Serrano, P; Silva, C ; Fleming, M; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
202
TITLE: An intermediate allele of 51 repeats found at the Machado-Joseph disease (MJD) locus: implications for predictive testing and the study of the origin of MJD mutation.
AUTHORS: Maciel, P; Rousseau, M; Gaspar, C; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
203
TITLE: Frequency of intragenic haplotypes and association with (CAG)n repeat length at the MJD1 locus in a large Azorean control group.
AUTHORS: Gaspar, C; Maciel, P; Guimaraes, L ; Arvidsson, K; Hayes, S; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
204
TITLE: Frequency of the CAG repeat mutations causing spinocerebellar ataxia in a large group of Portuguese ataxia families.
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
205
TITLE: Monozygotic twins with familial amyloid neuropathy - TTRMet30 (FAP-1) with onset 12 years apart.
AUTHORS: Munar Ques, M; Gusmao, L ; Seruca, R ; Amorim, Antonio ; Sequeiros, J ;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
206
TITLE: Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients
AUTHORS: Maciel, P ; LopesCendes, I; Kish, S; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 4
INDEXED IN: Scopus WOS
IN MY: ORCID
207
TITLE: Offer and utilization of genetic testing in the dominant ataxias: towards guidelines.
AUTHORS: Sequeiros, J ; Nance, MA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
208
TITLE: Segregation distortion at the familial amyloid neuropathy - TTRMet30 locus.
AUTHORS: Sousa, A; Ferreira, C; Lobato, L; Coelho, T; Sequeiros, J ;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
209
TITLE: A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease
AUTHORS: DeStefano, AL; Cupples, LA; Maciel, P ; Gaspar, C; Radvany, J; Dawson, DM; Sudarsky, L; Corwin, L; Coutinho, P ; MacLeod, P; Sequeiros, J ; Rouleau, GA; Farrer, LA;
PUBLISHED: 1996, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
210
TITLE: Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
AUTHORS: Silveira, I ; LopesCendes, I; Kish, S; Maciel, P ; Gaspar, C; Coutinho, P ; Botez, MI; Teive, H; Arruda, W; Steiner, CE; PintoJunior, W; Maciel, JA; Jain, S; Sack, G; Andermann, E; Sudarsky, L; Rosenberg, R; MacLeod, P; Chitayat, D; Babul, R; Sequeiros, J ; Rouleau, GA; ...More
PUBLISHED: 1996, SOURCE: NEUROLOGY, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
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