Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson(Erasmus MC), Reza Maroofian(University of Exeter), A. Nazlı Başak(Koç University), Rawan Almass(King Faisal Specialist Hospital & Research Centre), Khalid AlAhmadi(King Faisal Specialist Hospital & Research Centre), Futwan Al‐Mohanna(King Faisal Specialist Hospital & Research Centre), Nikolas A. Kühn(Erasmus MC), Luana Gabriela Dalla Rosa Vieira(Universidade da Região de Joinville), Robin Palvadeau(Koç University), Ewa Goljan(King Faisal Specialist Hospital & Research Centre), Bashayer S. Alawam(King Faisal Specialist Hospital & Research Centre), Anoud Albader(King Faisal Specialist Hospital & Research Centre), Romulo Mombach, Tarek Mustafa Owaidah(King Faisal Specialist Hospital & Research Centre), Salmo Raskin(Universidade Positivo), Hazem Ghebeh(Alfaisal University), Aljohara Alharbi(King Faisal Specialist Hospital & Research Centre), Hamad Alzaidan(King Faisal Specialist Hospital & Research Centre), Dürdane Aksoy(Tokat Gaziosmanpaşa Üniversitesi), Najim Ameziane(Centogene (Germany)), Faten Almutairi(King Faisal Specialist Hospital & Research Centre), Maysoon Alsagob(King Faisal Specialist Hospital & Research Centre), Najmeh Ahangari(Mashhad University of Medical Sciences), Banan Al‐Younes(King Faisal Specialist Hospital & Research Centre), Daniah Trabzuni(University College London), Dilek Çolak(King Faisal Specialist Hospital & Research Centre), Albandary AlBakheet(King Faisal Specialist Hospital & Research Centre), Hesham Aldhalaan(King Faisal Specialist Hospital & Research Centre), Jill A. Rosenfeld(Baylor College of Medicine), Stefan T. Arold(King Abdullah University of Science and Technology), Brian F. Meyer(King Abdulaziz City for Science and Technology), Aljouhra AlHargan(King Faisal Specialist Hospital & Research Centre), Kristina Lanko(Erasmus MC), Faisal S. BinHumaid(King Faisal Specialist Hospital & Research Centre), Ehsan Ghayoor Karimiani(Manchester Academic Health Science Centre), Bedri Karakas(King Faisal Specialist Hospital & Research Centre), Ali Al‐Odaib(King Faisal Specialist Hospital & Research Centre), Raghda M Sabbagh(King Faisal Specialist Hospital & Research Centre), Elena Perenthaler(Erasmus MC), Herma C. van der Linde(Erasmus MC), Dorota Monies(King Faisal Specialist Hospital & Research Centre), Tainá Regina Damaceno Silveira(Centogene (Germany)), Osama M Mustafa(King Faisal Specialist Hospital & Research Centre), Maryam Najafi(Radboud University Nijmegen), Dinu Antony(University Medical Center Freiburg), Arndt Rolfs(Centogene (Germany)), Mazhor Aldosary(King Faisal Specialist Hospital & Research Centre), Mohammad A. Al–Muhaizea(King Faisal Specialist Hospital & Research Centre), Nada Al-Ahmadi(King Faisal Specialist Hospital & Research Centre), Anita Nikoncuk(Erasmus MC)
Brain
January 25, 2021
Cited by 52


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