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Differential diagnosis of chorea (guidelines of the German Neurological Society)2023 Neurological Research and Practice article Medicine Neurological and metabolic disorders Open access
Carsten Saft, Jean‐Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, +4 more
13citations -
Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction2023 Orphanet Journal of Rare Diseases article Neuroscience Genetic Neurodegenerative Diseases Open access
Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, +3 more
8citations -
The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review2025 Journal of Huntington s Disease article Neuroscience Genetic Neurodegenerative Diseases Open access
Anna van Hofslot, Mayke Oosterloo, Joost J.A. de Jong, Ruben L. Andriessen, Susanne Tamara de Bot, David E.J. Linden
0citations -
Developing HDAC4-Selective Protein Degraders To Investigate the Role of HDAC4 in Huntington’s Disease Pathology2022 Journal of Medicinal Chemistry article Neuroscience Genetic Neurodegenerative Diseases Open access
Natsuko Macabuag, William Esmieu, Perla Breccia, Rebecca E. Jarvis, Wesley Blackaby, Ovadia Lazari, +19 more
34citations -
Small-molecule modulators of TRMT2A decrease PolyQ aggregation and PolyQ-induced cell death2021 Computational and Structural Biotechnology Journal article Neuroscience Genetic Neurodegenerative Diseases Open access
Michael A. Margreiter, Monika Witzenberger, Yasmine Wasser, Elena Davydova, Robert Janowski, Jonas Metz, +12 more
19citations -
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 72024 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Linde F. Bouwman, Milou E.M. Joosen, Ronald A.M. Buijsen, Linda M. van der Graaf, Barry A. Pepers, Bas J. B. Voesenek, +3 more
3citations -
Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 12026 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Laurie M.C. Kerkhof, Barry A. Pepers, Linda M. van der Graaf, Angela Santiago-Aranda, Bas J. B. Voesenek, Eric A. Reits, +2 more
0citations -
Identification and Optimization of RNA-Splicing Modulators as Huntingtin Protein-Lowering Agents for the Treatment of Huntington’s Disease2023 Journal of Medicinal Chemistry article Neuroscience Genetic Neurodegenerative Diseases Open access cited by 1 patent
Longbin Liu, Karine Malagu, Alan F. Haughan, Vinod K. Khetarpal, Andrew J. Stott, William Esmieu, +41 more
8citations -
Post‐mortem 7T MR imaging and neuropathology in middle stage juvenile‐onset Huntington disease: A case report2022 Neuropathology and Applied Neurobiology article Neuroscience Genetic Neurodegenerative Diseases Open access
Hannah S. Bakels, Sjoerd G. van Duinen, Jeroen de Bresser, Willeke van Roon‐Mom, Louise van der Weerd, Susanne Tamara de Bot
3citations