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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
12
TITLE: Longitudinal description of health-related quality of life and depressive symptoms in polyQ spinocerebellar ataxia patients  Full Text
AUTHORS: Audrey Iskandar; Maresa Buchholz; Iris Blotenberg; Tanja Schmitz Hübsch; Jennifer Faber; Heike Jacobi; Feng Xie; Marcus Grobe Einsler; Thomas Klockgether; Bernhard Michalowsky; Alhassane Diallo; Sonia Molho; Jörg B Schulz; Massimo Padolfo; Jun Suk Kang; Sylvia Boesch; Sandra Szymanski; Dagmar Timmann; José Berciano; Antonella Antenora; Alessandro Filla; Bela Melegh; Laszlo Baliko; Holger Hengel; Anna Sobanska; Anna Sulek; Maria Rakowicz; Marta Panzeri; Lorenzo Nanetti; Caterina Mariotti; Cecilia Marelli; Perrine Charles; Alexis Brice; Alexandra Durr; Michael H Parkinson; Robyn Labrum; Arron Cook; Paola Giunti; Peter Bauer; Sophie Tezenas du Montcel; Olaf Riess; Ludger Schöls; Leire Manrique; Jon Infante; Judith van Gaalen; Bart van de Warrenburg; Almut Turid Bischoff; Gülin Öz; Hector Garcia Moreno; Chiadikaobi Onyike; Jeroen de Vries; Friedrich Erdlenbruch; Andreas Thieme; Joana Afonso Ribeiro; Patrick Silva; Luís Pereira de Almeida ; Demet Oender; Berkan Koyak; Carlos Gonzales; Mafalda Raponso; Kathrin Reetz; ...More
PUBLISHED: 2025, SOURCE: Journal of Neurology, VOLUME: 272, ISSUE: 5
INDEXED IN: Scopus CrossRef: 1
13
TITLE: Optimizing mucosal vaccination: Exploiting Lactobionic acid-modified chitosan for superior gene delivery systems  Full Text
AUTHORS: Colaco, Mariana; Panao Costa, Joao; Cruz, Maria T. ; de Almeida, Luis Pereira ; Borges, Olga;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES, VOLUME: 327
INDEXED IN: Scopus WOS CrossRef
14
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
15
TITLE: rAAV-Delivered Bicistronic Artificial microRNAs for Allele-Specific Silencing Improve Motor and Molecular Outcomes in Spinocerebellar Ataxia Type 3
AUTHORS: Ana Carolina Silva; Carina Henriques; Diana D Lobo; Ana Rita Fernandes; Miguel M Lopes; Kevin Leandro; Dina Pereira; Sónia P Duarte ; Sara M Lopes; Magda M Santana; Amal Dakka; Steve De Marco; Marla Weetall; Jana Narasimhan; Anu Bhattacharyya; Rui Jorge Nobre; Luís Pereira de Almeida ;
PUBLISHED: 2025
INDEXED IN: CrossRef
16
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
17
TITLE: Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice
AUTHORS: Ferreira Marques, Marisa; Carmo Silva, Sara; Pereira, Joana; Botelho, Mariana; Nobrega, Clevio; Lopez Otin, Carlos; de Almeida, Luis Pereira ; Aveleira, Celia A.; Cavadas, Claudia;
PUBLISHED: 2025, SOURCE: GEROSCIENCE
INDEXED IN: Scopus WOS CrossRef
18
TITLE: Spinocerebellar ataxia type 3: from pathogenesis to promising therapeutics  Full Text
AUTHORS: Silva, Ana Carolina; Lopes, Miguel Monteiro; Lobo, Diana Duarte; Henriqu, Carina; de Almeida, Luis Pereira ; Nobre, Rui Jorge;
PUBLISHED: 2025, SOURCE: TRENDS IN MOLECULAR MEDICINE, VOLUME: 31, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
20
TITLE: Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease  Full Text
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira ; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schoels, Ludger; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela ; ...More
PUBLISHED: 2024, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 193
INDEXED IN: Scopus WOS CrossRef
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