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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2013
Konular:
Original Articles
Online Erişim: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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