학술논문
Bi-allelic variants in HOPS subunit VPS41 cause cerebellar ataxia and point to differential lysosomal dysregulation in brain cell types
Document Type
Journal
Author
Sanderson, Leslie E.; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmady, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad; Alzaidan, Hamad; Aldhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C.; Nikoncuk, Anita; Kuhn, Nikolas; Antony, Dinu; Owaidah, Tarek; Raskin, Salmo; Vieira, Luana; Mombach, Romulo; Ahangari, Najmeh; Silveira, Taina; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; Alhargan, Aljouhra; Albader, Anoud; Binhumaid, Faisal; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane; Basak, Nazli A.; Palvadeau, Robin; Rosenfeld, Jill; Trabzuni, Daniah; Karimiani, Ehsan; Meyer, Brian; Karakac, Bedri; Al-Mohanna, Futwan; Arold, Stefan; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida; Schmidts, Miriam; Barakat, Tahsin S.; van Ham, Tjakko; Kaya, Namik
Source
Subject
Language
English
ISSN
14765438