Bi-allelic variants in HOPS subunit VPS41 cause cerebellar ataxia and point to differential lysosomal dysregulation in brain cell types
Leslie E. Sanderson,Kristina Lanko,Maysoon Alsagob,Rawan Almass,Nada Al-Ahmady,Maryam Najafi,Mohammad Al-Muhaizea,Hamad Alzaidan,Hesham Aldhalaan, Elena Perenthaler, Herma C. van der Linde,Anita Nikoncuk, Nikolas Kuhn,Dinu Antony, Tarek Owaidah,Salmo Raskin,Luana Vieira,Romulo Mombach,Najmeh Ahangari, Taina Silveira,Najim Ameziane,Arndt Rolfs,Aljohara Alharbi,Raghda Sabbagh,Khalid AlAhmadi,Bashayer Alawam,Hazem Ghebeh,Aljouhra Alhargan,Anoud Albader, Faisal Binhumaid,Faten Almutairi,Ali Al-Odaib,Durdane Aksoy,Nazli A. Basak,Robin Palvadeau,Jill Rosenfeld,Daniah Trabzuni,Ehsan Karimiani,Brian Meyer, Bedri Karakac,Futwan Al-Mohanna,Stefan Arold,Dilek Colak,Reza Maroofian,Henry Houlden,Aida Bertoli-Avella,Miriam Schmidts,Tahsin S. Barakat,Tjakko van Ham,Namik Kaya EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
AI 理解论文
溯源树
样例