Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

BACKGROUND AND OBJECTIVES: Pathogenic variants in the valosin-containing protein (VCP) gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease, Paget disease of the bone, frontotemporal dementia, and parkinsonism termed multisystem proteinopathy. This hallmark...

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Detalles Bibliográficos
Autores principales: Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-Ávila, Marta, Chou, Tsui-Fen, Li, Shan, Wang, Feng, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Nishino, Ichizo, Inoue, Michio, Nishimori, Yukako, Saito, Yoshihiko, Katsuno, Masahisa, Noda, Seiya, Ito, Chihiro, Otsuka, Mieko, Nahir, Sruthi, Manousakis, Georgios, Walk, David, Quinn, Colin, Alfano, Lindsay, Sahenk, Zarife, Tasca, Giorgio, Monforte, Mauro, Sabatelli, Mario, Bisogni, Giulia, Oldfors, Anders, Rydeliu, Anna, Pal, Endre, Paradas, Carmen, Velez, Beatriz, De Bleecker, Jan L., Farugia, Maria Elena, Longman, Cheryl, Harms, Matthew B., Ralston, Stuart, Zanoteli, Edmar, Macedo Serafim da Silva, Andre, Sotoca, Javier, Juntas-Morales, Raul, Bevilacqua, Jorge, Balart, Mireya, Talbot, Stuart, Straub, Volker, Guglieri, Michela, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Weihl, Conrad Chris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10427110/
https://www.ncbi.nlm.nih.gov/pubmed/37588275
http://dx.doi.org/10.1212/NXG.0000000000200093

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