Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Hereditary spastic paraparesis type 15 is a recessive complicated form of the disease clinically characterized by slowly progressive spastic paraparesis and mental deterioration with onset between the first and second decade of life. Thinning of corpus callosum is the neuroradiological distinctive s...

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מידע ביבליוגרפי
Main Authors: Vantaggiato, Chiara, Crimella, Claudia, Airoldi, Giovanni, Polishchuk, Roman, Bonato, Sara, Brighina, Erika, Scarlato, Marina, Musumeci, Olimpia, Toscano, Antonio, Martinuzzi, Andrea, Santorelli, Filippo Maria, Ballabio, Andrea, Bresolin, Nereo, Clementi, Emilio, Bassi, Maria Teresa
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2013
נושאים:
Original Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3784282/
https://ncbi.nlm.nih.gov/pubmed/24030950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt227
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