191
TITLE: Molecular analysis of the P/Q type Ca2+ channel alpha 1-subunit gene in patients with progressive cerebellar ataxia.
AUTHORS: Alonso, I; Moreira, MC; Mendonca, P; Jardim, L; Barros, José ; Coutinho, P; Sequeiros, J ; Silveira, I;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
192
TITLE: Molecular analysis of the untranslated (CTG)(n) trinucleotide repeat that causes SCAB.
AUTHORS: Silveira, I; Alonso, I; Mendonca, P; Costa, M; Jardim, L; Barbot, C; Barros, José ; Coutinho, P; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
193
TITLE: Molecular characterization of a set of Portuguese patients with Friedreich ataxia.
AUTHORS: Miranda, C; Barbot, C; Pinto, M; Moreira, MC; Mendonca, P; Poirier, J; Ferreira, C; Barros, J; Cabral, P; Ferro, J; Silveira, I; Pandolfo, M; Coutinho, P; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
194
TITLE: Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)(n) tract  Full Text
AUTHORS: Maciel, P ; Gasper, C; Guimaraes, L ; Goto, J; Lopez Cendes, I; Hayes, S; Arvidsson, K; Dias, A; Sequeiros, J ; Sousa, A ; Rouleau, GA;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID
195
TITLE: Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
AUTHORS: Munar Ques, M; Pedrosa, JL; Coelho, T; Gusmao, L ; Seruca, R ; Amorim, Antonio ; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 36, ISSUE: 8
INDEXED IN: Scopus WOS
IN MY: ORCID
196
TITLE: Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families  Full Text
AUTHORS: Silveira, I ; Coutinho, P ; Maciel, P ; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1998, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS, VOLUME: 81, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
197
TITLE: Anticipation of age-at-onset in Portuguese patients with familial amyloid polyneuropathy (FAPMET30)  Full Text
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Barros, José ; Ferreira, C; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
198
TITLE: Familial amyloid polyneuropathy (FAP-Met30) in Portugal and Sweden: phenotypic variability and departures from mendelian inheritance  Full Text
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Barros, José ; Ferreira, C; Andersson, R; Drugge, U; Sandgren, O; Holmgren, G; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
199
TITLE: Frequency of SCA1, DRPLA, MJD, SCA2 and SCA6 mutations in a large group of Portuguese families with spinocerebellar ataxia  Full Text
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Hayes, S; Dias, A; Guimaraes, J; Loureiro, LL; Barros, José ; Chorao, R; Ribeiro, P; Bettencourt, M; Serrano, P; Silva, C; Rouleau, GA; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
200
TITLE: Genetics of Machado-Joseph disease  Full Text
AUTHORS: Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
Page 20 of 24. Total results: 240.