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

Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy : a case report

Source
Neuromuscular disorders - ISSN 0960-8966-50 (2025) p. 1-4
Author(s)

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Source
Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
Author(s)
    Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen, Tanya Stojkovic, Peter Hackman, Mridul Johari, Johanna Palmio, Megan A. Waldrop, Alayne P. Meyer, Stefan Nicolau, Kevin M. Flanigan, Ana Topf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Zuchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisele Bonne, Bjarne Udd, Jonathan Baets