21
TITLE: 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization  Full Text
AUTHORS: Garcia-Murias, M; Quintans, B; Arias, M; Seixas, AI; Cacheiro, P; Tarrio, R; Pardo, J; Millan, MJ; Arias-Rivas, S; Blanco-Arias, P; Dapena, D; Moreira, R; Rodriguez-Trelles, F; Sequeiros, J; Carracedo, A; Silveira, I; Sobrido, MJ;
PUBLISHED: 2012, SOURCE: Brain, VOLUME: 135, ISSUE: 5
INDEXED IN: CrossRef
IN MY: ORCID
22
TITLE: Haplotypes in five Portuguese DRPLA families  Full Text
AUTHORS: Silveira, I; Matama, T; Martins, S; Guimaraes, L ; Sequeiros, J ;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS
23
TITLE: Trinucleotide and pentanuclectide repeats in 202 unrelated families with spinocerebellar ataxia.
AUTHORS: Silveira, I; Alonso, I; Miranda, C; Guimaraes, L ; Moreira, MC; Mendonca, P; Ferro, A; Pinto Basto, J; Coelho, J; Ferreirinha, F; Jardim, L; Coutinho, P; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4
INDEXED IN: WOS
25
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
26
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
27
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
28
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
29
TITLE: MOLECULAR DIAGNOSIS OF SCA1, DRPLA AND MJD MUTATIONS IN A LARGE GROUP OF ATAXIA PATIENTS
AUTHORS: SILVEIRA, I; LOPESCENDES, I; SEQUEIROS, J ; ROULEAU, GA;
PUBLISHED: 1995, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 57, ISSUE: 4
INDEXED IN: WOS
30
TITLE: Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds  Full Text
AUTHORS: Jorge Sequeiros; Isabel Silveira; Patrı́cia Maciel; Paula Coutinho; Alexandra Manaia; Claudia Gaspar; Philippe Burlet; Leal Loureiro; João Guimarães; Hajime Tanaka; Yoshihisa Takiyama; Hirosuke Sakamoto; Masatoyo Nishizawa; Yoshiko Nomura; Masaya Segawa; Shoji Tsuji; Judith Melki; Arnold Munnich;
PUBLISHED: 1994, SOURCE: Genomics, VOLUME: 21, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID
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