11
TITLE: Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)  Full Text
AUTHORS: Teresa Almeida; Isabel Alonso ; Sandra Martins ; Eliana Marisa Ramos; Luisa Azevedo ; Kinji Ohno; Amorim, Antonio ; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2009, SOURCE: PLOS ONE, VOLUME: 4, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 37
12
TITLE: Huntington's disease-like 2 and apparent ancestry - Response to Tumas et al.  Full Text
AUTHORS: Sequeiros, J ; Santos, C; Laura B Jardim;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 2
13
TITLE: Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease  Full Text
AUTHORS: Sandra Martins ; Paula Coutinho ; Isabel Silveira ; Paola Giunti; Laura B Jardim; Francesc Calafell; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 147B, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 20
14
TITLE: Huntington disease-like 2: the first patient with apparent European ancestry  Full Text
AUTHORS: Santos, C; Wanderley, H; Vedolin, L; D. J. Pena; Jardim, L; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
15
TITLE: Machado-joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population  Full Text
AUTHORS: Prestes, PR; Saraiva Pereira, ML; Silveira, I ; Sequeiros, J ; Jardim, LB;
PUBLISHED: 2008, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 72, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
16
TITLE: Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy  Full Text
AUTHORS: Marion Deon; Angela Sitta; Alethea G Barschak; Daniela M Coelho; Maiara Pigatto; Graziela O Schmitt; Laura B Jardim; Roberto Giugliani; Moacir Wajner; Carmen R Vargas;
PUBLISHED: 2007, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 25, ISSUE: 7
INDEXED IN: WOS CrossRef
17
TITLE: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy A Rouleau; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 54
18
TITLE: ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
AUTHORS: Di Fonzo, A; Chien, HF; Socal, M; Giraudo, S; Tassorelli, C; Iliceto, G; Fabbrini, G; Marconi, R; Fincati, E; Abbruzzese, G; Marini, P; Squitieri, F; Horstink, MW; Montagna, P; Libera, AD; Stocchi, F; Goldwurm, S; Ferreira, JJ ; Meco, G; Martignoni, E; Lopiano, L; Jardim, LB; Oostra, BA; Barbosa, ER; Bonifati, V; Bonifati, V; Vanacore, N; Meco, G; Fabbrini, G; Fabrizio, E; Locuratolo, N; Scoppetta, C; Manfredi, M; Berardelli, A; Lopiano, L; Giraudo, S; Bergamasco, B; Tassorelli, C; Pacchetti, C; Nappi, G; Goldwurm, S; Antonini, A; Pezzoli, G; Riboldazzi, G; Bono, G; Raudino, F; Mi Manfredi; Fincati, E; Tinazzi, M; Bonizzato, A; Ferracci, C; Dalla Libera, A; Abbruzzese, G; Marchese, R; Montagna, P; Marini, P; Massaro, F; Marconi, R; Guidi, M; Minardi, C; Rasi, F; Onofrj, M; Thomas, A; Stocchi, F; Vacca, L; De Pandis, F; De Mari, M; Diroma, C; Iliceto, G; Lamberti, P; Toni, V; Trianni, G; Mauro, A; De Gaetano, A; Rizzo, M; Cossu, G; Rieder, CRM; Saraiva Pereira, ML; ...More
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 19
INDEXED IN: Scopus WOS CrossRef
19
TITLE: Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
AUTHORS: Cecchin, CR; Pires, AP; Rieder, CR; Monte, TL; Silveira, I ; Carvalho, T; Saraiva Pereira, ML; Sequeiros, J ; Jardim, LB;
PUBLISHED: 2007, SOURCE: COMMUNITY GENETICS, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
20
TITLE: Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings  Full Text
AUTHORS: Trott, A; Jardim, LB; Ludwig, HT; Saute, JAM; Artigalas, O; Kieling, C; Wanderley, HYC; Rieder, CRM; Monte, TL; Socal, M; Alonso, I ; Ferro, A; Carvalho, T; do Ceu Moreira, M; Mendonca, P; Ferreirinha, F ; Silveira, I ; Sequeiros, J ; Giugliani, R; Saraiva Pereira, ML;
PUBLISHED: 2006, SOURCE: CLINICAL GENETICS, VOLUME: 70, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 22
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