학술논문
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
Document Type
Article
Author
De Pace, R.; Williamson, C.D.; Bonifacino, J.S.; Maroofian, R.; Houlden, H.; Paimboeuf, A.; Patten, S.A.; Zamani, M.; Galehdari, H.; Zeighami, J.; Zaki, M.S.; Sadeghian, S.; Azizimalamiri, R.; Fleming, E.; Zhou, D.; Thiffault, I.; Gannon, J.L.; Farrow, E.; Roze, E.; Suri, M.; Zifarelli, G.; Bauer, P.; Severino, M.
Source
In: Brain . (Brain, 1 May 2024, 147(5):1751-1767)
Subject
Language
English
ISSN
14602156
00068950
00068950