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

Source
Movement disorders: video, videotape supplements - ISSN 0885-3185-41:1 (2026) p. 84-94
Author(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

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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Source
The journal of clinical investigation - ISSN 0021-9738-135:23 (2025) p. 1-20
Author(s)
    Natalia Dominik, Stephanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, Jevin M. Parmar, Annarita Scardamaglia, Reza Maroofian, Simon A. Lowe, Gabriel N. Aughey, Abigail D. Wilson, Riccardo Curro, Ricardo P. Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelcheska, Yohanns Bellaiche, Isabelle Gaugue, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da'as, Valentina Turchetti, Serdal Gungor, Gavin V. Monahan, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Phillipa J. Lamont, Maria Camila Armirola Ricaurte, Haluk Topaloglu, Albena Jordanova, Mashaya Zaman, Selina H. Banu, Wilson Marques, Pedro J. Tomaselli, Busra Aynekin, Ali Cansu, Huseyin Per, Ayten Gulec, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M.M. Motazacker, Esther Brusse, Vincenzo Lupo, Jonathan Baets, Henry Houlden