Jonathan De Winter onbezoldigd medewerker

Publicaties Jonathan De Winter

Brachio-cervical inflammatory myopathy : multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis

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Acta neuropathologica - ISSN 0001-6322-151:1 (2026) p. 1-15
Auteur(s)
    Felix Kleefeld, Joanna Teran Gamboa, Iago Pinal-Fernandez, Corinna Preusse, Christopher Nelke, Hans-Hilmar Goebel, Alexander Mensch, Agata Mossakowski, Mohi-Uddin Miah, Jordi Diaz-Manera, Eleonora Torchia, Sara Bortolani, Andreas Hentschel, Andreas Funke, Sarah Souvannanorath, Francois-Jerome Authier, Edoardo Malfatti, Johannes Gehrig, Andrew L. Mammen, Maria Casal-Dominguez, Jonathan De Winter, Willem De Ridder, Tobias Ruck, Udo Schneider, Andreas Roos, Eduard Gallardo, Giorgio Tasca, Werner Stenzel

Charcot-Marie-Tooth disease and related neuropathies

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Nature reviews disease primers - ISSN 2056-676X-12:1 (2026) p. 1-20
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Expanding the genetic and phenotypic spectrum of DYT-VPS16 : the importance of splice-site variants

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Movement disorders: video, videotape supplements - ISSN 0885-3185-41:1 (2026) p. 84-94
Auteur(s)
    Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marce-grau, Ana Cazurro-gutierrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al-ali, Mariana Ferreira, Ligia S. Almeida, Taina Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Peter Klivenyi, Andras Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada-arismendy, Goran Cuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinksel, Ales Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belen Perez-duenas, Aida M. Bertoli-avella

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy

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The journal of physiology - ISSN 0022-3751-603:17 (2025) p. 4907-4910
Auteur(s)