Onderzoeker
Jonathan De Winter
- Trefwoorden:Geneeskunde
- Disciplines:Neurologische en neuromusculaire ziekten, Genetica
Affiliaties
- Translationele Neurowetenschappen (TNW) (Onderzoeksgroep)
Lid
Vanaf1 okt 2021 → Heden
Publicaties
1 - 10 van 11
- Hereditary motor neuropathy(2024)
Auteurs: Jonathan De Winter, Jonathan Baets
Pagina's: 1 - 15 - Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias(2024)
Auteurs: Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baets
Pagina's: 227 - 238 - Distinct features in adult polyglucosan body disease(2023)
Auteurs: Jonathan De Winter, Gert Cypers, Edwin Jacobs, Tine Deconinck, Willem De Ridder, Sven Dekeyzer, Jonathan Baets
Pagina's: 148 - 152 - A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(2023)
Auteurs: 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.
Pagina's: 1 - 15 - Twist exome capture allows for lower average sequence coverage in clinical exome sequencing(2023)
Auteurs: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.
Pagina's: 1 - 9 - Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies(2023)
Auteurs: Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, et al.
Pagina's: 4880 - 4890 - Commentary(2022)
Auteurs: Liedewei Van de Vondel, Jonathan De Winter
Pagina's: 1 - 3 - De novo and dominantly inherited SPTAN1 mutations cause spastic paraplegia and cerebellar ataxia(2022)
Auteurs: Liedewei Van de Vondel, Jonathan De Winter, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot‐Noël, Tine Deconinck, et al.
Pagina's: 1175 - 1186 - A recurrent KPNA3 missense variant causing infantile pure spastic paraplegia(2022)
Auteurs: Jonathan De Winter, Liedewei Van de Vondel, Stephan Zuchner, Els Ortibus
Pagina's: 298 - 299 - RFC1 repeat expansions(2022)
Auteurs: Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, et al.
Pagina's: 2156 - 2161