A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

In this work, we describe the association of a novel homozygous VPS11 variant with adult‐onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fu...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Monfrini, Edoardo, Cogiamanian, Filippo, Salani, Sabrina, Straniero, Letizia, Fagiolari, Gigliola, Garbellini, Manuela, Carsana, Emma, Borellini, Linda, Biella, Fabio, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Duga, Stefano, Comi, Giacomo P., Aureli, Massimo, Di Fonzo, Alessio
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8048445/
https://ncbi.nlm.nih.gov/pubmed/33452836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.26021
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