Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

Source
Brain - ISSN 0006-8950- (2025) p. 1-15
Author(s)
    Holger Hengel, Shabab B. Hannan, Selina Reich, Danique Beijer, Johanna Roller, Bernd K. Gilsbach, Christian Johannes Gloeckner, Daniel Greene, Dagmar Timmann, Christel Depienne, Andrew Mumford, Mary O’Driscoll, Andrea H Nemeth, Julie Lundberg, Lance H. Rodan, Ange-Line Bruel, Julian Delanne, Tine Deconinck, Jonathan Baets, Ziv Gan-Or, Guy Rouleau, Oksana Suchowersky, Mehrdad A. Estiar, Stephen Reich, Camilo Toro, Stephan Züchner, Jamilé Hazan, Hjörvar Pétursson, Florian Harmuth, Claudia Bauer, Peter Bauer, Ernest Turro, David Lambright, Ludger Schöls, Matthis Synofzik

Awareness of bone strength in patients with neuromuscular disorders : ERN EURO-NMD clinician survey and European patient survey

Source
Journal of the neurological sciences - ISSN 0022-510X-472 (2025) p. 1-9
Author(s)
    M.T.A. Kruse, B.A.S. Olde Dubbelink, M. Kroneman, I. de Groot, S. Schlüter, M. de Visser, T. Evangelista, A. Moretti, D. Weber, L.M. Ward, N.C. Voermans, A. D'Amico, Jonathan Baets, M. Baumann, N. van der Beek, J. De Bleecker, A. Bruijnes, K. Claeys, C. Bruno, M. Dambrauskiene, E. D'Errico, M. Filosto, M. Gosk-Tomek, S. Herdewyn, C. Kornblum, A. Kostera-Pruszczyk, L. Maggi, F. Manganelli, W. Mueller-Felber, F. Munell, A. Nadaj-Pakleza, A. Nascimento, M. Olive, K. Ørstavik, J. Palmio, E. Pegoraro, B. Peterlin, A.T. van der Ploeg, S. Quijano-Roy, G. Remiche, G. Ricci, M. Rohlenová, A. Rosenbohm, S. Sacconi, V. Sansone, M. Santos, U. Schara-Schmidt, S. Servidei, G. Siciliano, A. Zambon

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Source
Genome research - ISSN 1088-9051-35:4 (2025) p. 755-768
Author(s)
    Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graessner, Sergi Beltran, Alexander Hoischen

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

Source
Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2025,201 p.