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.

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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

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article

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

Judith van Gaalen, Héctor García‐Moreno, Manuela Lima, Berkan Koyak et al.
3 citations
Journal of Neurology
Genetic Neurodegenerative Diseases
0.80
article

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

Judith van Gaalen, Héctor García‐Moreno, Manuela Lima, Berkan Koyak, Jon Infante, Matthis Synofzik, Mafalda Raposo, Thomas Klockgether, Sara Lopes, Demet Oender, Luís Pereira de Almeida, Magda M. Santana, Kathrin Reetz, Tamara Schaprian, Paola Giunti, Marcus Grobe‐Einsler, Daniel Sturm, Olaf Rieß, Ana Rosa Vieira Melo, Heike Jacobi, Friedrich Erdlenbruch, Tim Elter, Ludger J. Schöls, Patrick Silva, Jeroen J. de Vries, Bart P. van de Warrenburg, Suran Nethisinhe
article en
3 citations

Abstract

Our results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies.

Journal of NeurologyVol. 272(1)
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)
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
Good health and well-being
Openalex Percentile: Top 28%
Genetic Neurodegenerative Diseases
0.80
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