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 T Arold; Dilek Colak; Reza Maroofian; Henry Houlden; Aida Bertoli-Avella; Miriam Schmidts; Tahsin S Barakat; Tjakko van Ham; Namik Kaya

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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, …

Springer Nature

04/2022

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Title: Bi-allelic variants in HOPS subunit VPS41 cause cerebellar ataxia and point to differential lysosomal dysregulation in brain cell types
Creators - without role: 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 T Arold
Dilek Colak
Reza Maroofian
Henry Houlden
Aida Bertoli-Avella
Miriam Schmidts
Tahsin S Barakat
Tjakko van Ham
Namik Kaya
Publisher: Springer Nature
Identifiers: 9918988308331
Academic Unit: King Faisal University; King Abdulaziz City for Science & Technology; King Abdullah University of Science & Technology; King Saud University; Alfaisal University
Language: English
Resource Type: Presentation