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TITLE: DNA METHYLATION PROFILES IN MACHADO-JOSEPH DISEASE: A PILOT STUDY IN WHOLE BLOOD SAMPLES FROM PATIENTS  Full Text
AUTHORS: Melo, Ana Rosa Vieira; Raposo, Mafalda; Bettencourt, Conceicao; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD  Full Text
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: GLOBAL BLOOD DNA METHYLATION LEVELS IN MACHADO-JOSEPH DISEASE (MJD)/SPINOCEREBELLAR ATAXIA TYPE 3 (SCA3): AN EXPLORATORY STUDY  Full Text
AUTHORS: Teves, Luis; Melo, Ana Rosa; Ferreira, Ana; Raposo, Mafalda; Bettencourt, Conceicao; Lemos, Carolina; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3  Full Text
AUTHORS: Garcia Moreno, Hector; Prudencio, Mercedes; Thomas Black, Gilbert; Solanky, Nita; Jansen West, Karen R.; Hanna AL Shaikh, Rana; Heslegrave, Amanda; Zetterberg, Henrik; Santana, Magda M.; Pereira de Almeida, Luis; Vasconcelos Ferreira, Ana; Januario, Cristina; Infante, Jon; Faber, Jennifer; Klockgether, Thomas; Reetz, Kathrin; Raposo, Mafalda; Ferreira, Ana F.; Lima, Manuela; Schols, Ludger; Synofzik, Matthis; Hubener Schmid, Jeannette; Puschmann, Andreas; Gorcenco, Sorina; Wszolek, Zbigniew K.; Petrucelli, Leonard; Giunti, Paola; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY
INDEXED IN: Scopus WOS
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TITLE: Enhancing optimization planning models for health human resources management with foresight  Full Text
AUTHORS: Amorim Lopes, M ; Oliveira, M; Raposo, M; Cardoso Grilo, T; Alvarenga, A; Barbas, M; Alves, M; Vieira, A; Barbosa Povoa, A;
PUBLISHED: 2021, SOURCE: OMEGA-INTERNATIONAL JOURNAL OF MANAGEMENT SCIENCE, VOLUME: 103
INDEXED IN: Scopus WOS CrossRef
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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
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TITLE: Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias  Full Text
AUTHORS: Amanda Ramos; Mafalda Raposo; Montserrat Mila; Conceicao Bettencourt; Henry Houlden; Bulmaro Cisneros; Jonathan J Magana; Bruno Filipe Bettencourt; Jacome Bruges Armas; Cristina Santos; Manuela Lima;
PUBLISHED: 2016, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 58, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases. DNA Repair Pathways Modify polyQ Disease Onset  Full Text
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; Peter Holmans; Henry Houlden; Sarah J Tabrizi; Lesley Jones; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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