Jonathan De Winter doctoraatsbursaal

Publicaties Jonathan De Winter

An interconnected data infrastructure to support large-scale rare disease research

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GigaScience - ISSN 2047-217X-13 (2024) p. 1-14
Auteur(s)
    Lennart F. Johansson, Steve Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo, Coline Thomas, Davide Piscia, Fernanda de Andrade, Gerieke Been, Marieke Bijlsma, Han Brunner, Sandi Cimerman, Farid Yavari Dizjikan, Kornelia Ellwanger, Marcos Fernandez, Mallory Freeberg, Gert-Jan van de Geijn, Roan Kanninga, Vatsalya Maddi, Mehdi Mehtarizadeh, Pieter Neerincx, Stephan Ossowski, Ana Rath, Dieuwke Roelofs-Prins, Marloes Stok-Benjamins, K. Joeri van der Velde, Colin Veal, Gerben van der Vries, Marc Wadsley, Gregory Warren, Birte Zurek, Thomas Keane, Holm Graessner, Sergi Beltran, Morris A. Swertz, Anthony J. Brookes, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Patrick May

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

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medRxiv : the preprint server for health sciences- (2024) p.
Auteur(s)
    Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen, Tanya Stojkovic, Peter Hackman, Mridul Johari, Johanna Palmio, Megan A Waldrop, Alayne P Meyer, Stefan Nicolau, Kevin M Flanigan, Ana Töpf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Züchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisèle Bonne, Bjarne Udd, Jonathan Baets

Long-term follow up in anti-contactin-1 autoimmune nodopathy

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Annals of neurology - ISSN 0364-5134- (2024) p.
Auteur(s)
    Marta Caballero-avila, Lorena Martin-Aguilar, Elba Pascual-Goni, Milou R. Michael, Marleen J.A. Koel-Simmelink, Romana Hoeftberger, Julia Wanschitz, Alicia Alonso Jimenez, Thais Armangue, Adaja Elisabeth Baars, Alvaro Carbayo, Barbara Castek, Roger Collet-Vidiella, Jonathan De Winter, Maria angeles del Real, Emilien Delmont, Luca Diamanti, Pietro Emiliano Doneddu, Fu Liong Hiew, Eduard Gallardo, Amaia Gonzalez, Susanne Grinzinger, Alejandro Horga, Stephan Iglseder, Bart C. Jacobs, Amaia Jauregui, Joep Killestein, Elisabeth Lindeck Pozza, Laura Martinez-Martinez, Eduardo Nobile-Orazio, Nicolau Ortiz, Helena Perez-Perez, Kai-Nicolas Poppert, Paolo Ripellino, Jose Carlos Roche, Franscisco Javier Rodriguez de Rivera, Kevin Rostasy, Davide Sparasci, Clara Tejada-Illa, Charlotte C. E. Teunissen, Elisa Vegezzi, Tomas Xucla-Ferrarons, Fabian Zach, Luuk Wieske, Filip Eftimov, Cinta Lleixa, Luis Querol

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay

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Brain communications - ISSN 2632-1297-6:4 (2024) p. 1-9
Auteur(s)
    Daniele De Ritis, Laura Ferre, Jonathan De Winter, Clemence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi, Nicolas Dupre, Jonathan Baets, Massimo Filippi, Francesca Maltecca