Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Hereditary spastic paraplegias are a group of inherited motor neuron diseases characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia gene SPG11, encoding spatacsin, cause an autosomal-recessive disease trait; however, the precise knowledge about the role of spat...

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Auteurs principaux: Pérez-Brangulí, Francesc, Mishra, Himanshu K., Prots, Iryna, Havlicek, Steven, Kohl, Zacharias, Saul, Domenica, Rummel, Christine, Dorca-Arevalo, Jonatan, Regensburger, Martin, Graef, Daniela, Sock, Elisabeth, Blasi, Juan, Groemer, Teja W., Schlötzer-Schrehardt, Ursula, Winkler, Jürgen, Winner, Beate
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2014
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4140466/
https://ncbi.nlm.nih.gov/pubmed/24794856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu200
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