1
TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
AUTHORS: Fulya Akcimen; Sandra Martins ; Calwing Liao; Cynthia V Bourassa; Helene Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C Franca; Joao Vasconcelos; Manuela Lima; Iscia Lopes Cendes; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2020, SOURCE: AGING-US, VOLUME: 12, ISSUE: 6
INDEXED IN: WOS
2
TITLE: Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal  Full Text
AUTHORS: Lavinia Schuler Faccini; Claudio Maria Osorio; Flavia Romariz; Milena Paneque ; Jorge Sequeiros; Laura Bannach Jardim;
PUBLISHED: 2014, SOURCE: GENETICS AND MOLECULAR BIOLOGY, VOLUME: 37, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 15
3
TITLE: Huntington Disease, Huntington Disease-Like Type 2 and Spinocerebellar Ataxia Type 2 in a Case Series from Brazil
AUTHORS: Laura Jardim; Aline Souza; Gabriel Furtado; Tailise Gheno; Fernando Vargas; Maria Angelica Lima; Karina Donis; Raphael Castilhos; Orlando Barsottini; Jose Pedroso; Clecio Godeiro Junior; Diego Salarini; Eliana Pereira; Katia Lin; Maria Betania Toralles; Luiz Santana da Silva; Jorge Sequeiros; Isabel Alonso; Maria Luiza Saraiva Pereira;
PUBLISHED: 2013, SOURCE: 65th Annual Meeting of the American-Academy-of-Neurology (AAN) in NEUROLOGY, VOLUME: 80
INDEXED IN: WOS
4
TITLE: Clinical Characteristics and Progression Rate of Brazilian and Peruvian Patients with SCA10
AUTHORS: Laura Jardim; Jonas Saute; Karina Donis; Tailise Gheno; Gabriel Furtado; Anna Fontanari; Vanessa Emmel; Jose Pedroso; Orlando Barsottini; Clecio Godeiro Junior; Helio Linden; Eliana Pereira; Raphael Castilhos; Isabel Alonso; Jorge Sequeiros; Mario Cornejo Olivas; Pilar Mazetti Soler; Vanessa Torman; Maria Luiza Saraiva Pereira;
PUBLISHED: 2013, SOURCE: 65th Annual Meeting of the American-Academy-of-Neurology (AAN) in NEUROLOGY, VOLUME: 80
INDEXED IN: WOS
5
TITLE: Clinical Characteristics and Progression Rate of Brazilian and Peruvian Patients with SCA10
AUTHORS: Laura Jardim; Jonas Saute; Karina Donis; Tailise Gheno; Gabriel Furtado; Anna Fontanari; Vanessa Emmel; Jose Pedroso; Orlando Barsottini; Clecio Godeiro Junior; Helio Linden; Eliana Pereira; Raphael Castilhos; Isabel Alonso; Jorge Sequeiros; Mario Cornejo Olivas; Pilar Mazetti Soler; Vanessa Torman; Maria Luiza Saraiva Pereira;
PUBLISHED: 2013, SOURCE: 65th Annual Meeting of the American-Academy-of-Neurology (AAN) in NEUROLOGY, VOLUME: 80
INDEXED IN: WOS
6
TITLE: Ataxia Rating Scales-Psychometric Profiles, Natural History and Their Application in Clinical Trials  Full Text
AUTHORS: Jonas Alex M Morales Saute; Karina Carvalho Donis; Carmen Serrano Munuera; David Genis; Luis T Torres Ramirez; Pilar Mazzetti; Luis V Velazquez Perez; Pilar Latorre; Jorge Sequeiros ; Antoni Matilla Duenas; Laura Bannach Jardim;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
7
TITLE: Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3  Full Text
AUTHORS: Siebert, M; Donis, KC; Socal, M; Rieder, CRM; Emmel, VE; Vairo, F; Michelin Tirelli, K; Franca, M; D'Abreu, AC; Bettencourt, C; Lima, M ; Lopes L Cendes; Saraiva Pereira, ML; Jardirn, LB;
PUBLISHED: 2012, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 18, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
8
TITLE: Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?  Full Text
AUTHORS: Emmel, VE; Alonso, I ; Jardim, LB; Saraiva Pereira, ML; Sequeiros, J ;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 79, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
9
TITLE: Common Origin of Pure and Interrupted Repeat Expansions in Spinocerebellar Ataxia Type 2 (SCA2)  Full Text
AUTHORS: Eliana Marisa Ramos; Sandra Martins ; Isabel Alonso ; Vanessa E Emmel; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Paula Coutinho ; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 153B, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 28
10
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
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