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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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2013
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Original Articles
Online-ссылка: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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