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TITLE: Allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease expansion carriers
AUTHORS: Ana Rosa Vieira Melo; Sandra Martins; Sara Pavão; Luís Teves; Ana F Ferreira; Ahmed M Sidky; Jorge Sequeiros; Darren G Monckton; Manuela Lima ; Mafalda Raposo;
PUBLISHED: 2026
INDEXED IN: CrossRef
2
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 CrossRef
3
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
7
TITLE: Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers
AUTHORS: Teves, Luis; Vieira Melo, Ana Rosa; Ferreira, Ana F.; Raposo, Mafalda; Lemos, Carolina; Bettencourt, Conceicao; Lima, Manuela ;
PUBLISHED: 2024, SOURCE: EPIGENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
8
TITLE: Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3
AUTHORS: Sara Duarte-Silva; Jorge Diogo Da Silva; Daniela Monteiro-Fernandes; Marta Daniela Costa; Andreia Neves-Carvalho; Mafalda Raposo; Carina Soares-Cunha; Joana S Correia; Gonçalo Nogueira-Goncalves; Henrique S Fernandes; Stephanie Oliveira; Ana Rita Ferreira-Fernandes; Fernando Rodrigues; Joana Pereira-Sousa; Daniela Vilasboas-Campos; Sara Guerreiro; Jonas Campos; Liliana Meireles-Costa; Cecilia M.P Rodrigues ; Stephanie Cabantous; Sergio F Sousa; Manuela Lima ; Andreia Teixeira-Castro; Patricia Maciel ; ...More
PUBLISHED: 2024, SOURCE: Journal of Clinical Investigation, VOLUME: 134, ISSUE: 5
INDEXED IN: CrossRef
9
TITLE: SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
AUTHORS: Mischa Uebachs; Philipp Wegner; Sebastian Schaaf; Simon Kugai; Heike Jacobi; Sheng-Han Kuo; Tetsuo Ashizawa; Juliane Fluck; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; Marta Panzeri; Maria Rakowicz; Anna Sulek; Anna Sobanska; Tanja Schmitz-Hübsch; Ludger Schöls; Holger Hengel; Laszlo Baliko; Bela Melegh; Alessandro Filla; Antonella Antenora; Jon Infante; José Berciano; Bart P van de Warrenburg; Dagmar Timmann; Sandra Szymanski; Sylvia Boesch; Jun-Suk Kang; Massimo Pandolfo; Jörg B Schulz; Sonia Molho; Alhassane Diallo; Marcus Grobe-Einsler; Demet Önder; Mafalda Raposo; João Vasconcelos; Manuela Lima ; Luís Pereira de Almeida ; Patrick Silva; Inês Cunha; Paola Giunti; Hector Garcia-Moreno; Katarina Manso; Matthis Synofzik; Holger Hengel; Andreas Traschütz; Bart van de Warrenburg; Judith van Gaalen; Tessa Perbolt; Khalaf Bushara; Diane Hutter; Jon Infante; Leire Manrique; Andreas Thieme; Friedrich Erdlenbruch; Chiadi Onyike; Ann Fishman; Kathrin Reetz; Imis Dogan; Eva Ratai; Jeremy Schmahmann; Magda Santana; Jeannette Hübener-Schmid; Sophie Tezenas du Montcel; Sandro Romanzetti; Florian Harmuth; Caterina Mariotti; Lorenzo Nanetti; Maria Rakowicz; Grzegorz Makowicz; Alexandra Durr; Alessandro Filla; Alessandro Roca; Ludger Schöls; Holger Hengel; Jon Infante; Jun-Suk Kang; Carlo Casalo; Marcella Masciullo; Laszlo Baliko; Bela Melegh; Wolfgang Nachbauer; Katrin Bürk-Gergs; Jörg B Schulz; Olaf Riess; Kathrin Reetz; Karla P Figueroa; Susan L Perlman; Christopher M Gomez; George R Wilmot; Jeremy D Schmahmann; Sarah H Ying; Theresa A Zesiewicz; Henry L Paulson; Vikram G Shakkottai; Khalaf Bushara; Michael D Geschwind; Guangbin Xia; Stefan M Pulst; Sub H Subramony; Marcus Grobe-Einsler; Demet Önder; Berkan Koyak; Kathrin Reetz; Thomas Klockgether; Jennifer Faber; ...More
PUBLISHED: 2024, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 3
INDEXED IN: Scopus CrossRef
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TITLE: Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects
AUTHORS: Magda M Santana; Patrick Silva; Maria M Pinto; Laetitia Gaspar; Rui Nobre; Sónia Duarte; Tânia Monteiro Marques; Margarida Gama-Carvalho ; Cristina Januário; Inês Cunha; Joana Afonso Ribeiro; Jeannette Hübener-Schmid; Jon Infante; Mafalda Raposo; Manuela Lima ; Hector Garcia-Moreno; Paola Giunti; Bart van de Warrenburg; Matthis Synofzik; Jennifer Faber; Thomas Klockgether; Luís Pereira de Almeida; ...More
PUBLISHED: 2024
INDEXED IN: CrossRef
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