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Bi-allelic Variants in HOPS Complex Subunit VPS41 Cause Cerebellar Ataxia and Abnormal Membrane Trafficking

Leslie E. Sanderson,Kristina Lanko,Maysoon Alsagob,Rawan Almass,Nada Al-Ahmadi,Maryam Najafi,Mohammad A. Al-Muhaizea,Hamad Alzaidan,Hesham AlDhalaan,Elena Perenthaler,Herma C. van der Linde,Anita Nikoncuk,Nikolas A. Kuhn,Dinu Antony, Tarek Mustafa Owaidah,Salmo Raskin,Luana Gabriela Dalla Rosa Vieira,Romulo Mombach,Najmeh Ahangari,Taina Regina Damaceno Silveira,Najim Ameziane,Arndt Rolfs,Aljohara Alharbi,Raghda M. Sabbagh,Khalid AlAhmadi,Bashayer Alawam,Hazem Ghebeh,Aljouhra AlHargan,Anoud A. Albader,Faisal S. Binhumaid,Ewa Goljan,Dorota Monies,Osama M. Mustafa,Mazhor Aldosary,Albandary AlBakheet,Banan Alyounes,Faten Almutairi,Ali Al-Odaib,Durdane Bekar Aksoy,A. Nazli Basak,Robin Palvadeau,Daniah Trabzuni,Jill A. Rosenfeld,Ehsan Ghayoor Karimiani,Brian F. Meyer,Bedri Karakas,Futwan Al-Mohanna,Stefan T. Arold,Dilek Colak,Reza Maroofian,Henry Houlden,Aida M. Bertoli-Avella,Miriam Schmidts,Tahsin Stefan Barakat,Tjakko J. van Ham,Namik Kaya

BRAIN（2021）

引用 35|浏览48
关键词
cerebellar ataxia,membrane trafficking,neurodevelopmental disorder,VPS41,zebrafish disease modelling
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