OSCR

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

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Authors: Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz
and 9 other authorsFriedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid, ESMI study group
Published: 19 July 2025
Type: Research article
Status: code on request (how the code is found and verified)
License: CC BY
Institutions: University of Tübingen (Germany), University of Bonn (Germany), University Hospital Bonn (Germany), German Center for Neurodegenerative Diseases (Germany), Centro de Neurociências e Biologia Celular (Portugal), University of Coimbra (Portugal), Goethe University Frankfurt (Germany), Universidade do Porto (Portugal), i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (Portugal), Instituto de Biologia Molecular e Celular (Portugal), Universidade dos Açores (Portugal), Centro de Inovação em Biomedicina e Biotecnologia (Portugal), University College London Hospitals NHS Foundation Trust (United Kingdom), National Hospital for Neurology and Neurosurgery (United Kingdom), UCL Queen Square Institute of Neurology (United Kingdom), University College London (United Kingdom), University Medical Center Groningen (Netherlands), Radboud University Medical Center (Netherlands), Donders Institute for Brain, Cognition and Behaviour (Netherlands), Rijnstate Hospital (Netherlands), Jülich Aachen Research Alliance (Germany), RWTH Aachen University (Germany), Essen University Hospital (Germany), University of Duisburg-Essen (Germany), University Hospital Heidelberg (Germany), Universidad de Cantabria (Spain), Biomedical Research Networking Center on Neurodegenerative Diseases (Spain), Marqués de Valdecilla University Hospital (Spain), Instituto de Investigación Marqués de Valdecilla (Spain), Hertie Institute for Clinical Brain Research (Germany)

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