TBK1-associated motor neuron disease with concomitant vacuolar myopathy : a case resembling a multisystem proteinopathy

Source
Neuromuscular disorders - ISSN 0960-8966-53 (2025) p. 1-4
Author(s)

Muscle biopsy findings in valosin-containing protein multisystem proteinopathy

Source
Neurology : Genetics - ISSN 2376-7839-11:4 (2025) p. 1-13
Author(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

Non-muscle myosin II regulates presynaptic actin and neuronal mechanobiology in Drosophila

Source
The journal of cell biology - ISSN 0021-9525-224:9 (2025) p.
Author(s)

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