1
TITLE: Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease  Full Text
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Liu, Louisa; Vasconcelos, Joao; Kay, Teresa; Bettencourt, Conceicao; Saraiva Pereira, Maria Luiza; Jardim, Laura Bannach; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2025, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: Scopus WOS
2
TITLE: Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing  Full Text
AUTHORS: Raposo, Mafalda; Bettencourt, Conceicao; Melo, Ana Rosa Vieira; Ferreira, Ana F. ; Alonso, Isabel; Silva, Paulo; Vasconcelos, Joao; Kay, Teresa; Saraiva Pereira, Maria Luiza; Costa, Marta D.; Vilasboas Campos, Daniela; Bettencourt, Bruno Filipe; Bruges Armas, Jacome; Houlden, Henry; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patricia ; Lima, Manuela ;
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 162
INDEXED IN: Scopus WOS CrossRef: 2 Handle
3
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
4
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
5
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
6
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
7
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
8
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
9
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
10
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
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