171
TITLE: Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients
AUTHORS: Barbot, C ; Coutinho, P ; Chorao, R; Ferreira, C; Barros, José ; Fineza, I; Dias, K; Monteiro, JP; Guimaraes, A; Mendonca, P; Moreira, MD; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID
172
TITLE: The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin  Full Text
AUTHORS: Moreira, MC; Barbot, C ; Tachi, N; Kozuka, N; Uchida, E; Gibson, T; Mendonca, P; Costa, M; Barros, José ; Yanagisawa, T; Watanabe, M; Ikeda, Y; Aoki, M; Nagata, T; Coutinho, P ; Sequeiros, J ; Koenig, M;
PUBLISHED: 2001, SOURCE: NATURE GENETICS, VOLUME: 29, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 307
IN MY: ORCID
173
TITLE: The MJD1 homologue in C-elegans is expressed ubiquitously and is essential for egg laying and hatching.
AUTHORS: Santos, C; Ailion, M; Thomas, J; Sequeiros, J ; Maciel, P;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4
INDEXED IN: WOS
174
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
175
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
INDEXED IN: WOS
176
TITLE: CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
AUTHORS: Gaspar, C; Jannatipour, M; Dion, P; Laganiere, J; Sequeiros, J ; Brais, B; Rouleau, GA;
PUBLISHED: 2000, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 9, ISSUE: 13
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
177
TITLE: Genetic risk factors in pediatric ischemic stroke - a retrospective study.
AUTHORS: Ferro, A; Pinto Basto, J; Barreirinho, S; Santos, M; Barbot, C; Costa, E ; Sousa, A; Barbot, J; Sequeiros, J ; Maciel, P;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
178
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
INDEXED IN: Scopus WOS CrossRef: 65
IN MY: ORCID
179
TITLE: Homozygosity mapping of ataxia-oculomotor apraxia locus 1 to chromosome 9 and evidence for genetic heterogeneity.
AUTHORS: Moreira, MC; Barbot, C; Mendonca, P; Miranda, C; Coutinho, P; Sequeiros, J ; Koenig, M;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
180
TITLE: Improvement of the method for molecular diagnosis of Machado-Joseph Disease.
AUTHORS: Costa, MC; Santos, C; Ferro, A; Sequeiros, J ; Maciel, P;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
Page 18 of 24. Total results: 236.