Maria Paula Mourao do Amaral Coutinho


AuthID: R-000-CFK

Confirmed Publications: 76



31
TITLE: Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
AUTHORS: Maciel, P ; Cruz, VT ; Constante, M; Iniesta, I; Costa, MC; Gallati, S; Sousa, N ; Sequeiros, J ; Coutinho, P ; Santos, MM;
PUBLISHED: 2005, SOURCE: NEUROLOGY, VOLUME: 65, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 80
IN MY: ORCID
32
TITLE: Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
AUTHORS: Lima, M; Costa, MC; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A ; Sequeiros, J ; Coutinho, P ; Maciel, P ;
PUBLISHED: 2005, SOURCE: HUMAN HEREDITY, VOLUME: 60, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
33
34
TITLE: Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
AUTHORS: Durr, A; Camuzat, AS; Colin, E; Tallaksen, C; Hannequin, D; Coutinho, P ; Fontaine, B; Rossi, A; Gil, R; Rousselle, C; Ruberg, M; Stevanin, G; Brice, A;
PUBLISHED: 2004, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 61, ISSUE: 12
INDEXED IN: Scopus WOS
IN MY: ORCID
35
TITLE: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2  Full Text
AUTHORS: Moreira, MC; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A; Dunne, E; Bomont, P; Benhassine, T; Bouslam, N; Stevanin, G; Brice, A; Guimaraes, J; Mendonca, P; Barbot, C ; Coutinho, P ; Sequeiros, J ; Durr, A; Warter, JM; Koenig, M; ...More
PUBLISHED: 2004, SOURCE: NATURE GENETICS, VOLUME: 36, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
36
TITLE: Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: Clinical and neurophysiological studies  Full Text
AUTHORS: Conceicao, I; Sales Luis, ML; De Carvalho, M; Evangelista, T; Fernandes, R ; Paunio, T; Kangas, H; Coutinho, P ; Neves, C ; Saraiva, MJ ;
PUBLISHED: 2003, SOURCE: MUSCLE & NERVE, VOLUME: 28, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID
37
38
TITLE: Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin  Full Text
AUTHORS: Martins, S ; Matama, T ; Guimaraes, L ; Vale, J; Guimaraes, J; Ramos, L; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2003, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 11, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID
39
TITLE: Ocular apraxia in recessive ataxia [1] (multiple letters)
AUTHORS: Koeppen, AH; Coutinho, P ; Barbot, C ;
PUBLISHED: 2002, SOURCE: Archives of Neurology, VOLUME: 59, ISSUE: 5
INDEXED IN: Scopus
IN MY: ORCID
40
TITLE: Trinucleotide repeats in 202 families with ataxia - A small expanded (CAG)(n) allele at the SCA17 locus. A Small Expanded (CAG) n Allele at the SCA17 Locus
AUTHORS: Silveira, I ; Miranda, C; Guimaraes, L ; Moreira, MC; Alonso, I ; Mendonca, P; Ferro, A; Pinto Basto, J; Coelho, J; Ferreirinha, F ; Poirier, J; Parreira, E; Vale, J; Januario, C; Barbot, C ; Tuna, A; Barros, José ; Koide, R; Tsuji, S; Holmes, SE; Margolis, RL; Jardim, L; Pandolfo, M; Coutinho, P ; Sequeiros, J ; ...More
PUBLISHED: 2002, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 59, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 126
IN MY: ORCID
Página 4 de 8. Total de resultados: 76.

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