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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Andreas Roos, Peter F. M. van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, +26 more
10citations -
Mapping the aetiological foundations of the heart failure spectrum using human genetics2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Albert Carl Henry, Xiaodong Mo, Chris Finan, Mark D. Chaffin, Doug Speed, Hanane G. Issa, +91 more
6citations -
Geranylgeranylacetone as Prevention for Postoperative Atrial Fibrillation (GENIALITY)2025 Cardiovascular Drugs and Therapy article Medicine Atrial Fibrillation Management and Outcomes Open access
Kennedy Silva Ramos, Soufiane Nassiri, Leonoor F. J. M. Wijdeveld, Reinier L. van der Palen, Myrthe F. Kuipers, Mellanie True Hills, +8 more
6citations -
Structural polymorphism of α-synuclein fibrils alters pathway of Hsc70 mediated disaggregation2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Parkinson's Disease Mechanisms and Treatments Open access
Jessica Tittelmeier, Thi Lieu Dang, Tracy Bellande, Virginie Redeker, Alexander Kai Buell, Ronald Melki, +3 more
4citations -
Spatial protein expression patterns across pathologically-associated fibers revealed molecular specialization in inclusion body myositis2026 Cell Communication and Signaling article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
T. I. Nijssen, Simon J. Davis, R. A. O’Shaughnessy, Erik Bos, A. J. van der Kooi, Joost Raaphorst, +4 more
2citations -
Proteome modulation by opposite inotropic drugs in human engineered cardiac tissue revealed by topology-driven cross-modal integration2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Chemistry Advanced Proteomics Techniques and Applications Open access
Doroteya K. Staykova, Danique Snippert, Hans J. C. T. Wessels, Robert C. J. J. Passier, Federica Conte
0citations -
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Sonia H Shah, Albert Carl Henry, Carolina Roselli, Honghuang Lin, Garðar Sveinbjörnsson, Ghazaleh Fatemifar, +88 more
845citations -
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Dorit Verhoeven, Dieneke Schonenberg‐Meinema, Frédéric Ebstein, Jonas Johannes Papendorf, Paul A. Baars, Ester M. M. van Leeuwen, +9 more
33citations -
Alternative Polyadenylation Utilization Results in Ribosome Assembly and mRNA Translation Deficiencies in a Model for Muscle Aging2022 The Journals of Gerontology Series A article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Hailiang Mei, J. H. VAN BOOM, Salma el Abdellaoui, Kotb Abdelmohsen, Rachel Munk, Jennifer L. Martindale, +5 more
15citations