Jonathan Baets hoogleraar - fundamenteel klinisch navorser

Publicaties Jonathan Baets

Heterozygous OGDH variants are involved in peripheral neuropathy with ataxia and optical atrophy

Bron
JIMD Reports - ISSN 2192-8312-67:4 (2026) p.
Auteur(s)

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

Bron
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

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