Mafalda Sofia Bastos Raposo


AuthID: R-001-GHR

Publications Requiring Validation

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TITLE: Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
AUTHORS: Tim Lukas Elter; Daniel Sturm; Magda Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; Berkan Koyak; Demet Oender; Marcus Grobe Einsler; Sara Lopes; Patrick Silva; Luís Pereira de Almeida; Paola Giunti; Hector Garcia Moreno; Suran Nethisinhe; Jeroen de Vries; Bart van de Warrenburg; Judith van Gaalen; Matthis Synofzik; Ludger Schöls; Kathrin Reetz; Friedrich Erdlenbruch; Heike Jacobi; Jon Infante; Olaf Riess; Thomas Klockgether; Andreas Thieme; Dagmar Timmann; Jennifer Faber; Jeannette Hübener Schmid; ...More
PUBLISHED: 2025, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 272, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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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: 6
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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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