Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype...

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Detalles Bibliográficos
Autores principales: Denora, Paola S., Smets, Katrien, Zolfanelli, Federica, Ceuterick-de Groote, Chantal, Casali, Carlo, Deconinck, Tine, Sieben, Anne, Gonzales, Michael, Zuchner, Stephan, Darios, Frédéric, Peeters, Dirk, Brice, Alexis, Malandrini, Alessandro, De Jonghe, Peter, Santorelli, Filippo M., Stevanin, Giovanni, Martin, Jean-Jacques, El Hachimi, Khalid H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621/
https://www.ncbi.nlm.nih.gov/pubmed/27016404
http://dx.doi.org/10.1093/brain/aww061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621/
https://www.ncbi.nlm.nih.gov/pubmed/27016404
http://dx.doi.org/10.1093/brain/aww061

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