Jonathan De Winter onbezoldigd medewerker

Publicaties Jonathan De Winter

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- (2025) p.
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)

Genetic insights in hereditary neurological and neuromuscular disorders : spectrins bridge neurons to muscles

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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2025,201 p.
Auteur(s)

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

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Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
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 Topf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Zuchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisele Bonne, Bjarne Udd, Jonathan Baets