SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25...

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Detalles Bibliográficos
Autores principales: Orlacchio, Antonio, Babalini, Carla, Borreca, Antonella, Patrono, Clarice, Massa, Roberto, Basaran, Sarenur, Munhoz, Renato P., Rogaeva, Ekaterina A., St George-Hyslop, Peter H., Bernardi, Giorgio, Kawarai, Toshitaka
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822627/
https://www.ncbi.nlm.nih.gov/pubmed/20110243
http://dx.doi.org/10.1093/brain/awp325

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