Brachio-cervical inflammatory myopathy : multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis

Source
Acta neuropathologica - ISSN 0001-6322-151:1 (2026) p. 1-15
Author(s)
    Felix Kleefeld, Joanna Teran Gamboa, Iago Pinal-Fernandez, Corinna Preusse, Christopher Nelke, Hans-Hilmar Goebel, Alexander Mensch, Agata Mossakowski, Mohi-Uddin Miah, Jordi Diaz-Manera, Eleonora Torchia, Sara Bortolani, Andreas Hentschel, Andreas Funke, Sarah Souvannanorath, Francois-Jerome Authier, Edoardo Malfatti, Johannes Gehrig, Andrew L. Mammen, Maria Casal-Dominguez, Jonathan De Winter, Willem De Ridder, Tobias Ruck, Udo Schneider, Andreas Roos, Eduard Gallardo, Giorgio Tasca, Werner Stenzel

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