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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza.
Afiliación
  • Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Almass R; KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.
  • Al-Ahmadi N; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Najafi M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Al-Muhaizea MA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Alzaidan H; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia.
  • AlDhalaan H; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.
  • Perenthaler E; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.
  • van der Linde HC; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Nikoncuk A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Kühn NA; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Antony D; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Owaidah TM; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Raskin S; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Vieira LGDR; Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
  • Mombach R; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.
  • Ahangari N; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Silveira TRD; Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil.
  • Ameziane N; Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710.
  • Rolfs A; Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil.
  • Alharbi A; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran.
  • Sabbagh RM; CENTOGENE GmbH, 18055 Rostock.
  • AlAhmadi K; CENTOGENE GmbH, 18055 Rostock.
  • Alawam B; CENTOGENE GmbH, 18055 Rostock.
  • Ghebeh H; Medical University of Rostock, 18051 Rostock.
  • AlHargan A; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Albader AA; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Binhumaid FS; Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Goljan E; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Monies D; Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
  • Mustafa OM; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Aldosary M; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • AlBakheet A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Alyounes B; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Almutairi F; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Al-Odaib A; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Aksoy DB; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Basak AN; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Palvadeau R; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Trabzuni D; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Rosenfeld JA; Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
  • Karimiani EG; Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey.
  • Meyer BF; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, Istanbul, Turkey.
  • Karakas B; Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, Istanbul, Turkey.
  • Al-Mohanna F; Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK.
  • Arold ST; Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA.
  • Colak D; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Maroofian R; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran.
Brain ; 144(3): 769-780, 2021 04 12.
Article en En | MEDLINE | ID: mdl-33764426
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Predisposición Genética a la Enfermedad / Transporte de Proteínas / Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Predisposición Genética a la Enfermedad / Transporte de Proteínas / Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos