换一批
换一批Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
第一作者：
Leslie E,Sanderson
第一单位：
Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
作者：
Leslie E,Sanderson [1]
;
Kristina,Lanko [1]
;
Maysoon,Alsagob [2]
;
Rawan,Almass [3]
;
Nada,Al-Ahmadi [2]
;
Maryam,Najafi [4]
;
Mohammad A,Al-Muhaizea [2]
;
Hamad,Alzaidan [5]
;
Hesham,AlDhalaan [6]
;
Elena,Perenthaler [7]
;
Herma C,van der Linde [8]
;
Anita,Nikoncuk [4]
;
Nikolas A,Kühn [8]
;
Dinu,Antony [1]
;
Tarek Mustafa,Owaidah [1]
;
Salmo,Raskin [1]
;
Luana Gabriela Dalla Rosa,Vieira [1]
;
Romulo,Mombach [7]
;
Najmeh,Ahangari [9]
;
Tainá Regina Damaceno,Silveira [10]
;
Najim,Ameziane [11]
;
Arndt,Rolfs [12]
;
Aljohara,Alharbi [13]
;
Raghda M,Sabbagh [14]
;
Khalid,AlAhmadi [14]
;
Bashayer,Alawam [14]
;
Hazem,Ghebeh [15]
;
Aljouhra,AlHargan [9]
;
Anoud A,Albader [9]
;
Faisal S,Binhumaid [8]
;
Ewa,Goljan [4]
;
Dorota,Monies [16]
;
Osama M,Mustafa [2]
;
Mazhor,Aldosary [2]
;
Albandary,AlBakheet [2]
;
Banan,Alyounes [2]
;
Faten,Almutairi [2]
;
Ali,Al-Odaib [2]
;
Durdane Bekar,Aksoy [2]
;
A Nazli,Basak [2]
;
Robin,Palvadeau [2]
;
Daniah,Trabzuni [2]
;
Jill A,Rosenfeld [2]
;
Ehsan Ghayoor,Karimiani [17]
;
Brian F,Meyer [18]
;
Bedri,Karakas [18]
;
Futwan,Al-Mohanna [19]
;
Stefan T,Arold [20]
;
Dilek,Colak [21]
;
Reza,Maroofian [22]
;
Henry,Houlden [2]
;
Aida M,Bertoli-Avella [23]
;
Miriam,Schmidts [24]
;
Tahsin Stefan,Barakat [25]
;
Tjakko J,van Ham [26]
;
Namik,Kaya [27]
作者单位：
Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
[1]
Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
[2]
KACST-BWH/Harvard Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.
[3]
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
[4]
Department of Biology, Imam Abdulrahman bin Faisal University, Dammam 34212, Kingdom of Saudi Arabia.
[5]
Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.
[6]
Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.
[7]
Department of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[8]
Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[9]
Positivo University Medical School, Curitiba, Parana, 81280-330, Brazil.
[10]
Universidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710.
[11]
Núcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil.
[12]
Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran.
[13]
CENTOGENE GmbH, 18055 Rostock.
[14]
Medical University of Rostock, 18051 Rostock.
[15]
Stem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[16]
Gaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey.
[17]
Koc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey.
[18]
Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK.
[19]
Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA.
[20]
Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
[21]
Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, 9G58 + 69 Mashhad, Razavi Khorasan Province, Iran.
[22]
Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Kingdom of Saudi Arabia.
[23]
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211, Riyadh, Kingdom of Saudi Arabia.
[24]
Department of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[25]
Department of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[26]
Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.
[27]
Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.
[28]
Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
[29]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[30]
主题词
青少年(Adolescent);成年人(Adult);动物(Animals);小脑共济失调(Cerebellar Ataxia);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);男(雄)性(Male);系谱(Pedigree);蛋白质转运(Protein Transport);膜泡运输蛋白质类(Vesicular Transport Proteins);青年人(Young Adult);斑马鱼(Zebrafish)
DOI
10.1093/brain/awaa459
PMID
33764426
发布时间
2021-08-13
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Brain
Brain
769-780页
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