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Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

BACKGROUND AND OBJECTIVES: Pathogenic variations in fused in sarcoma (FUS) are among the most common genetic causes of amyotrophic lateral sclerosis (ALS) worldwide. They are supposedly characterized by a homogeneous pure motor phenotype with early-onset and short disease duration. However, a few FU...

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Detalles Bibliográficos
Autores principales: Grassano, Maurizio, Brodini, Giorgia, De Marco, Giovanni, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Brunetti, Maura, Sbaiz, Luca, Gallone, Salvatore, Cugnasco, Paolo, Bombaci, Alessandro, Vasta, Rosario, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Traynor, Bryan J., Chio, Adriano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469212/
https://www.ncbi.nlm.nih.gov/pubmed/36105853
http://dx.doi.org/10.1212/NXG.0000000000200011