Jonathan Baets hoogleraar - fundamenteel klinisch navorser

Publicaties Jonathan Baets

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties

Bron
Human genetics and genomics advances - ISSN 2666-2477-7:1 (2026) p. 1-12
Auteur(s)
    Sheila M. Peeples, Keyana Blake, Brendan L.M. Sutton, Marina Konyukh, Stephan Zuchner, Tanya Stojkovic, Jonathan Baets, Anthony Antonellis

Expanding the genetic and phenotypic spectrum of DYT-VPS16 : the importance of splice-site variants

Bron
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

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

Muscle biopsy findings in valosin-containing protein multisystem proteinopathy

Bron
Neurology : Genetics - ISSN 2376-7839-11:4 (2025) p. 1-13
Auteur(s)
    Marianela Schiava, Yolande Parkhurst, Matthew Henderson, Tuomo Polvikoski, Manouela V. Valtcheva, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Tanya Stojkovic, Rocio N. Villar-Quiles, Norma Beatriz Romero, Teresinha Evangelista, Edoardo Malfatti, Sarah Souvannanorath, Elena Pegoraro, Pietro Riguzzi, Mauro Monforte, Sara Bortolani, Eleonora Torchia, Mario Sabatelli, Giorgio Tasca, Volker Straub, Chiara Marini-Bettolo, Michela Guglieri, Hakan Cetin, Ellen Gelpi, Sigrid Klotz, Jan L. De Bleecker, Alicia Alonso Jimenez, Jonathan Baets, Willem De Ridder, Peter De Jonghe, Kristl G. Claeys, Dietmar Rudolf Thal, Jorge A. Bevilacqua, Sushan Luo, Wenhua Zhu, Jie Lin, George Papadimas, Constantinos Papadopoulos, Eleni Zamba-Papanicolaou, Sophia Xirou, Endre Pal, Carmelo Rodolico, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Anna Kaminska, Nuria Muelas, Jordi Diaz-Manera