António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Confirmed Publications: 236



181
TITLE: Trinucleotide Repeat Expansions implicated in SCA in a large group of families and isolated cases with ataxia.
AUTHORS: Silveira, I; Miranda, C; Moreira, MC; Mendonca, P; Alonso, I; Ferro, A; Poirier, J; Jardim, L; Barros, José ; Coutinho, P; Pandolfo, M; Sequeiros, J ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
182
TITLE: Anticipation of age-at-onset in Portuguese patients with familial amyloid polyneuropathy-type I (FAP-Met30)
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
183
TITLE: Discordant MZ twins in familial amyloid neuropathy (FAP)-TTRMet30.
AUTHORS: Sequeiros, J ; Pedrosa, JL; Coelho, T; Gusmao, L ; Seruca, R ; Amorim, Antonio ; Munar Ques, M;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
184
TITLE: Epidemiology of renal disease in the main focus of familiar amyloid polyneuropathy type I in Portugal
AUTHORS: Lobato, L; Guimaraes, SM; Beirao, I; Silva, M; Coelho, T; Barros, José ; Guimaraes, S; Sequeiros, J ; Sousa, A;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
185
TITLE: Familiar amyloid polyneuropathy-type I (FAP-Met30) in Portugal: phenotypic variability and deviations from Mendelian inheritance
AUTHORS: Sousa, A; Coelho, T; Barros, José ; Ferreira, C; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
186
TITLE: In spite of being caused by a single point mutation, familial amyloid polyneuropathy (Val30Met) is not a simple Mendelian disorder.
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
187
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
188
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
189
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
190
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
Página 19 de 24. Total de resultados: 236.

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