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NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis

INTRODUCTION: In the last few years, different studies highlighted a significant enrichment of NEK1 loss of function (LoF) variants in amyotrophic lateral sclerosis (ALS), and an additional role for the p.Arg261His missense variant in the disease susceptibility. Several other missense variants have...

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Detalles Bibliográficos
Autores principales: Riva, Nilo, Pozzi, Laura, Russo, Tommaso, Pipitone, Giovanni Battista, Schito, Paride, Domi, Teuta, Agosta, Federica, Quattrini, Angelo, Carrera, Paola, Filippi, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048593/
https://www.ncbi.nlm.nih.gov/pubmed/35495032
http://dx.doi.org/10.3389/fnins.2022.833051