Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

OBJECTIVE: The aim of this study was to evaluate whether mutations in ERLIN2, known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower limbs, could contribute to amyotro...

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Detalles Bibliográficos
Autores principales: Amador, Maria-Del-Mar, Muratet, François, Teyssou, Elisa, Banneau, Guillaume, Danel-Brunaud, Véronique, Allart, Etienne, Antoine, Jean-Christophe, Camdessanché, Jean-Philippe, Anheim, Mathieu, Rudolf, Gabrielle, Tranchant, Christine, Fleury, Marie-Céline, Bernard, Emilien, Stevanin, Giovanni, Millecamps, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927358/
https://www.ncbi.nlm.nih.gov/pubmed/32042907
http://dx.doi.org/10.1212/NXG.0000000000000374

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