ProfileOfResearchers

TITLE: CACNA1A gene polymorphisms in families with episodic ataxia and hemiplegic migraine.
AUTHORS: Alonso, I; Coelho, J; Mendonca, P; Jardim, L; Tuna, A; Barros, José ; Coutinho, P; Sequeiros, J ; Silveira, I;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4

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WOS

TITLE: High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles
AUTHORS: Silveira, I ; Alonso, I ; Guimaraes, L ; Mendonca, P; Santos, C; Maciel, P ; de Matos, JMF; Costa, M; Barbot, C ; Tuna, A; Barros, José ; Jardim, L; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 66, ISSUE: 3

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Scopus

WOS

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ORCID

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

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WOS

TITLE: Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families. Analysis of 106 Patients in 46 Families
AUTHORS: Coutinho, P ; Barros, José ; Zemmouri, R; Guimaraes, J; Alves, C; Chorao, R; Lourenco, E; Ribeiro, P; Loureiro, JL ; Santos, JV; Hamri, A; Paternotte, C; Hazan, J; Silva, MC ; Prud'homme, JF; Grid, D;
PUBLISHED: 1999, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 56, ISSUE: 8

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Scopus

WOS

IN MY:

ORCID

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

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WOS

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

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WOS

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

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WOS

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

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WOS

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

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WOS

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

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WOS

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