Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
Our results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies.
Authors
- Judith van Gaalen (ORCID: https://orcid.org/0000-0003-3488-8733)
- Héctor García‐Moreno (ORCID: https://orcid.org/0000-0002-0697-3271)
- Manuela Lima (ORCID: https://orcid.org/0000-0002-3357-3273)
- Berkan Koyak
- Jon Infante (ORCID: https://orcid.org/0000-0003-4025-4606)
- Matthis Synofzik (ORCID: https://orcid.org/0000-0002-2280-7273)
- Mafalda Raposo (ORCID: https://orcid.org/0000-0001-6899-0352)
- Thomas Klockgether (ORCID: https://orcid.org/0000-0001-6174-5442)
- Sara Lopes (ORCID: https://orcid.org/0000-0002-4322-8529)
- Demet Oender
- Luís Pereira de Almeida (ORCID: https://orcid.org/0000-0001-5831-3307)
- Magda M. Santana (ORCID: https://orcid.org/0000-0003-4076-7516)
- Kathrin Reetz (ORCID: https://orcid.org/0000-0002-9730-9228)
- Tamara Schaprian
- Paola Giunti (ORCID: https://orcid.org/0000-0003-3508-4788)
- Marcus Grobe‐Einsler (ORCID: https://orcid.org/0000-0002-1808-2134)
- Daniel Sturm
- Olaf Rieß (ORCID: https://orcid.org/0000-0002-7011-1369)
- Ana Rosa Vieira Melo
- Heike Jacobi
- Friedrich Erdlenbruch (ORCID: https://orcid.org/0009-0006-0654-836X)
- Tim Elter
- Ludger J. Schöls (ORCID: https://orcid.org/0000-0001-7774-5025)
- Patrick Silva (ORCID: https://orcid.org/0000-0002-5436-8949)
- Jeroen J. de Vries (ORCID: https://orcid.org/0000-0002-7534-4161)
- Bart P. van de Warrenburg
- Suran Nethisinhe
Institutions
- Universidade dos Açores (PT)
- University Medical Center Groningen (NL)
- University College London Hospitals NHS Foundation Trust (GB)
- University of Bonn (DE)
- Radboud University Nijmegen (NL)
- Heidelberg University (DE)
- University Hospital Bonn (DE)
- German Center for Neurodegenerative Diseases (DE)
- University Hospital Heidelberg (DE)
- Radboud University Medical Center (NL)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Marqués de Valdecilla University Hospital (ES)
- Instituto de Investigación Marqués de Valdecilla (ES)
- Jülich Aachen Research Alliance (DE)
- Hertie Institute for Clinical Brain Research (DE)
- National Hospital for Neurology and Neurosurgery (GB)
- Rijnstate Hospital (NL)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- University College London (GB)
- University of Duisburg-Essen (DE)
- University of Coimbra (PT)
- University of Tübingen (DE)
- RWTH Aachen University (DE)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1007/s00415-024-12829-9
- Citations
- 3
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- EU Joint Programme – Neurodegenerative Disease Research
- ZonMw
- Bundesministerium für Bildung und Forschung
- RWTH Aachen University
- Medical Research Council
- Fundação para a Ciência e a Tecnologia