Researcher
Jonathan Baets
- Research Expertise:Neurogenetics, molecular genetics, neuropathology, clinical neurology, clinical neurophysiology
- Keywords:NEUROPATHOLOGY, NEURO MUSCULAR DISEASES, PATHOMECHANISM, HEREDITARY NEUROPATHIES, GENETIC DISEASE, Medicine
- Disciplines:Neurosciences, Genetics, Clinical genetics and molecular diagnostics, Neurological and neuromuscular diseases, Neurophysiology, Histology
- Research techniques:molecular genetics, histopathology, clinical neurophysiology
- Users of research expertise:neurologists, neuroscientists, geneticists
Affiliations
- Translational Neurosciences (TNW) (Research group)
Member
From1 Jan 2019 → Today - Neurogenetics Group (Research group)
Member
From1 Jan 2015 → 31 Dec 2018 - Neurogenetics Group (Research group)
Member
From1 Oct 2003 → 31 Dec 2014
Projects
1 - 10 of 13
- Impact of α-spectrin mutations on the cytoskeleton and organelle organization in neurodegeneration (SpecDroHuman).From1 Sep 2023 → TodayFunding: HORIZON.1.2 - Marie Skłodowska-Curie-actions (MSCA)
- Dissecting the role of the KDM5A overactivity in the pathophysiology of sporadic Inclusion Body myositis : from the deep proteome towards disease models and novel therapies.From27 Apr 2023 → TodayFunding: Foundations, funds and other with scientific goal
- Study of SPTAN1 pathomechanisms: the spectrin complex as a central hub in rare neurological and neuromuscular diseases.From1 Jan 2023 → TodayFunding: FWO research project
- Agreement Born-Bunge Institute and University of Antwerp, 2023-2027.From1 Jan 2023 → TodayFunding: Fund Recuperation Fiscal Exemption
- Validation and characterization of SPTAN1 mutations as a novel cause for hereditary cerebellar ataxia.From1 Apr 2021 → 31 Mar 2022Funding: BOF - projects
- Unraveling neuromuscular spectrinopathies through SPTAN1 genotype-phenotype correlationsFrom2 Feb 2021 → 31 Dec 2021Funding: Foundations, funds and other with scientific goal
- IMARK. Network for image-based biomarker discovery and evaluationFrom1 Jan 2021 → TodayFunding: IOF - mandates
- Multidimensional analysis of the nervous system in health and disease (µNeuro).From1 Jan 2020 → TodayFunding: BOF - research organisations, Fund Recuperation Fiscal Exemption
- Primary muscle degeneration in sporadic Inclusion-Body Myositis: combining deep-proteome data in patient muscle tissue with novel cellular models to pinpoint key mechanisms driving inflammation and aberrant protein expression.From1 Jan 2019 → 31 Dec 2021Funding: FWO research grant KAN
- La myosite à inclusions, une maladie inflammatoire dégénératif : une approche protéomique afin d'identifier les mécanismes perturbant l'homéostasie protéinique.From1 Jan 2018 → 31 Dec 2018Funding: Foundations, funds and other with scientific goal
Publications
11 - 20 of 79
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(2023)
Authors: Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.
Pages: 1 - 15 - Twist exome capture allows for lower average sequence coverage in clinical exome sequencing(2023)
Authors: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.
Pages: 1 - 9 - Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14(2023)
Authors: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, et al.
Pages: 1 - 19 - Autosomal recessive cerebellar ataxias in Europe(2023)
Authors: Andreas Traschuetz, Astrid D. Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bjoern H. Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, et al.
Pages: 1109 - 1112 - HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies(2023)
Authors: Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, Valeria Crippa, Riccardo Cristofani, Paola Rusmini, Veronica Ferrari, Elena Casarotto, et al.
Pages: 2217 - 2239 - A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium(2023)
Authors: Jan L. De Bleecker, Kristl G. Claeys, Stephanie Delstanche, Vinciane Van Parys, Jonathan Baets, Sebastien Tilleux, Gauthier Remiche
Pages: 1029 - 1037 - Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies(2023)
Authors: Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, et al.
Pages: 4880 - 4890 - Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease(2022)
Authors: Eppie M. Yiu, Paula Bray, Jonathan Baets, Steven K. Baker, Nina Barisic, Katy de Valle, Timothy Estilow, Michelle A. Farrar, Richard S. Finkel, Jana Haberlová, et al.
Pages: 530 - 538 - BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease(2022)
Authors: Adriana P. Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, et al.
Pages: 2487 - 2500 - HINT1 neuropathy in Lithuania(2022)
Authors: Matilde Malcorps, Silvia Amor Barris, Birute Burnyte, Ramune Vilimiene, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, et al.
Pages: 1 - 11