191
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
192
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
193
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
194
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
195
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
196
TITLE: Genetics of Machado-Joseph disease  Full Text
AUTHORS: Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
197
TITLE: Living with Machado-Joseph disease (MJD) in a small rural community of the Tagus valley  Full Text
AUTHORS: Constança Paul ; Martin, I ; Rosario Silva, M; Silva, M; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6, ISSUE: 4
INDEXED IN: Scopus WOS
IN MY: ORCID
198
TITLE: Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis  Full Text
AUTHORS: Sequeiros, J ; Maciel, P ; Taborda, F; Ledo, S ; Rocha, JC; Lopes, A; Reto, F; Fortuna, AM; Rousseau, M; Fleming, M; Coutinho, P ; Rouleau, GA; Jorge, CS;
PUBLISHED: 1998, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 18, ISSUE: 6
INDEXED IN: WOS CrossRef
199
TITLE: Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis  Full Text
AUTHORS: Sequeiros, J ; Maciel, P ; Taborda, F; Ledo, S ; Rocha, JC; Lopes, A; Reto, F; Fortuna, AM; Rousseau, M; Fleming, M; Coutinho, P ; Rouleau, GA; Jorge, CS;
PUBLISHED: 1998, SOURCE: Prenatal Diagnosis, VOLUME: 18, ISSUE: 6
INDEXED IN: Scopus CrossRef
IN MY: ORCID
200
TITLE: Sex difference of renal disease in familial amyloid polyneuropathy type I (FAP-I)  Full Text
AUTHORS: Lobato, L; Sousa, A; Beirao, I ; Guimaraes, S; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
Page 20 of 24. Total results: 236.