Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

Abstract Objective Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result from the substitution of Aspartate 40 (Asp40) for an apo...

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Autors principals:	Daniel Natera‐de Benito, Jonathan Olival, Carla Garcia‐Cabau, Cristina Jou, Mònica Roldan, Anna Codina, Jessica Expósito‐Escudero, Cristina Batlle, Laura Carrera‐García, Carlos Ortez, Xavier Salvatella, Francesc Palau, Andrés Nascimento, Janet Hoenicka
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2023-03-01
Col·lecció:	Annals of Clinical and Translational Neurology
Accés en línia:	https://doi.org/10.1002/acn3.51731
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