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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: Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates  Full Text
AUTHORS: Maas, Roderick P. P. W. M.; Garcia Moreno, Hector; Faber, Jennifer; Gonzalez, Carlos; Schols, Ludger; de Vries, Jeroen J.; Bushara, Khalaf; Reetz, Kathrin; Onyike, Chiadi U.; Jacobi, Heike; Erdlenbruch, Friedrich; Infante, Jon; Santana, Magda M.; Hubener Schmid, Jeannette; de Almeida, Luis Pereira; Lima, Manuela ; Giunti, Paola; Klockgether, Thomas; Van De Warrenburg, Bart P. C.;
PUBLISHED: 2026, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 220
INDEXED IN: Scopus WOS CrossRef
3
TITLE: Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
AUTHORS: Grobe einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; Faber, Jennifer; Schaprian, Tamara; Hill, Katharina; Synofzik, Matthis; Graf, Lisa H.; Jacobi, Heike; Lima, Manuela ; Ferreira, Ana F.; van de Warrenburg, Bart P.; Willemse, Ilse H. J.; Timmann, Dagmar; Thieme, Andreas; Giunti, Paola; Garcia Moreno, Hector; Santana, Magda M.; Huebener Schmid, Jeannette; Davies, Elin H.; Klockgether, Thomas; ...More
PUBLISHED: 2026, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
INDEXED IN: Scopus WOS CrossRef
4
TITLE: Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease  Full Text
AUTHORS: Mota, Joana Paz; Rodrigues, Ines Tello; Ferreira, Ana Filipa; Melo, Ana Rosa Vieira; Pires, Paula; Lopes, Pedro; Vasconcelos, Joao; Raposo, Mafalda; Lima, Manuela ;
PUBLISHED: 2025, SOURCE: CEREBELLUM, VOLUME: 24, ISSUE: 6
INDEXED IN: WOS CrossRef
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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
6
TITLE: Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease  Full Text
AUTHORS: Ana F Ferreira; Mafalda Raposo; Emily D Shaw; Louisa Liu; João Vasconcelos; Teresa Kay; Conceição Bettencourt; Maria Luiza Saraiva‐Pereira; Laura Bannach Jardim; Maria do Carmo Costa; Manuela Lima ;
PUBLISHED: 2025, SOURCE: Annals of Neurology, VOLUME: 98, ISSUE: 1
INDEXED IN: CrossRef: 1
7
TITLE: Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis
AUTHORS: Lauerer, Marilena; Faber, Jennifer; Casadei, Nicolas; Santana, Magda M.; Auburger, Georg; Pogoda, Michaela; Admard, Jakob; Kaupp, Lea; Kos, Patricia Laura; Raposo, Mafalda; Lima, Manuela ; de Almeida, Luis Pereira ; Garcia Moreno, Hector; Giunti, Paola; de Vries, Jeroen; van de Warrenburg, Bart P.; van Gaalen, Judith; Grobe Einsler, Marcus; Koyak, Berkan; Reetz, Kathrin; Erdlenbruch, Friedrich; Jacobi, Heike; Infante, Jon; Hengel, Holger; Schoels, Ludger; Klockgether, Thomas; Riess, Olaf; Huebener Schmid, Jeannette; ...More
PUBLISHED: 2025, SOURCE: ACTA NEUROPATHOLOGICA COMMUNICATIONS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
8
TITLE: Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
AUTHORS: Berger, Moritz; Garcia Moreno, Hector; Ferreira, Monica; Hubener Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; Teichmann, Kennet M.; Santana, Magda M.; Grobe Einsler, Marcus; Oender, Demet; Koyak, Berkan S. C.; Bernsen, Sarah; de Almeida, Luis Pereira ; Silva, Patrick; Ribeiro, Joana Afonso; Cunha, Lines; Gonzalez Robles, Cristina; Khan, Shamsher; Heslegrave, Amanda; Zetterberg, Henrik; Lima, Manuela ; Raposo, Mafalda; Ferreira, Ana F.; Vasconcelos, Joao; van de Warrenburg, Bart P.; van Gaalen, Judith; van Prooije, Teije H.; de Vries, Eroen; Schols, Ludger; Riess, Olaf; Synofzik, Matthis; Timmann, Dagmar; Thieme, Andreas; Erdlenbruch, Friedrich; Infante, Jon; Pelayo Negro, Ana L.; Manrique, Leire; Reetz, Kathrin; Dogan, Imis; Oz, Gulin; Joers, JamesM.; Bushara, Khalafalla; Onyike, Chiadikaobi; Povazan, Michal; Jacobi, Heike; Schmahmann, Jeremy D.; Ratai, Eva Maria; Schmid, Matthias; Giunti, Paola; Klockgether, Thomas; Faber, Jennifer; ...More
PUBLISHED: 2025, SOURCE: The Lancet Regional Health - Europe in LANCET REGIONAL HEALTH-EUROPE, VOLUME: 55
INDEXED IN: Scopus WOS CrossRef: 1 Handle
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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: The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort
AUTHORS: Patrick Silva; Marina A Costa; Laetitia Gaspar; João Durães; Inês Cunha; Joana A Ribeiro; Cristina Januário; Bárbara Oliveiros; Jeannette Hübener-Schmid; Jennifer Faber; Mafalda Raposo; Manuela Lima ; Hector Garcia-Moreno; Paola Giunti; Lukas Beichert; Ludger Schöls; Bart P van de Warrenburg; Jeroen de Vries; Andreas Thieme; Kathrin Reetz; Heike Jacobi; Jon Infante; Thomas Klockgether; Ana Ferreira; Ana Rosa; Carlos Gonzalez; Cristina Gonzalez-Robles; Dagmar Timmann; Friedrich Erdlenbruch; João Lemos; João Vasconcelos; Luís Teves; Paula Pires; Pedro Lopes; Pedro Coelho; Teresa Kay; Luís Pereira de Almeida; Magda M Santana; ...More
PUBLISHED: 2025, SOURCE: CNS Drugs, VOLUME: 40, ISSUE: 2
INDEXED IN: CrossRef
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