作者:
Kimberley M,Reid [1]
;
Robert,Spaull [1]
;
Smrithi,Salian [2]
;
Katy,Barwick [3]
;
Esther,Meyer [1]
;
Juan,Zhen [1]
;
Hiromi,Hirata [4]
;
Diba,Sheipouri [5]
;
Hind,Benkerroum [6]
;
Kathleen M,Gorman [3]
;
Apostolos,Papandreou [7]
;
Michael A,Simpson [8]
;
Yoshinobu,Hirano [1]
;
Irene,Farabella [2]
;
Maya,Topf [9]
;
Detelina,Grozeva [5]
;
Keren,Carss [10]
;
Martin,Smith [11]
;
Hardev,Pall [12]
;
Peter,Lunt [10]
;
Susanna,De Gressi [13]
;
Erik-Jan,Kamsteeg [14]
;
Tobias B,Haack [15]
;
Lucinda,Carr [16]
;
Rita,Guerreiro [17]
;
Jose,Bras [18]
;
Eamonn R,Maher [19]
;
Richard H,Scott [20]
;
Robert J,Vandenberg [21]
;
F Lucy,Raymond [2]
;
Wui K,Chong [22]
;
Sniya,Sudhakar [22]
;
Kshitij,Mankad [23]
;
Maarten E,Reith [24]
;
Philippe M,Campeau [6]
;
Robert J,Harvey [14]
;
Manju A,Kurian [25]
作者单位:
Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
[1]
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
[2]
Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.
[3]
Cell Therapy and Cell Engineering Facility, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
[4]
Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.
[5]
School of Medical Sciences, University of Sydney, Sydney, New South Wales, Australia.
[6]
Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
[7]
School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
[8]
Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, United Kingdom.
[9]
Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, United Kingdom.
[10]
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
[11]
Leibniz Institute for Virology (HPI) and Universitätsklinikum Hamburg Eppendorf (UKE), Centre for Structural Systems Biology (CSSB), Hamburg, Germany.
[12]
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
[13]
Centre for Trials Research, Neuadd Meirionnydd, Cardiff University, Cardiff, United Kingdom.
[14]
Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
[15]
Department of Neurology, John Radcliffe Hospital, Oxford, United Kingdom.
[16]
Department of Neurology, Queen Elizabeth Hospital, Birmingham, United Kingdom.
[17]
Clinical Genetic Service, Gloucester Royal Hospital, Gloucester, United Kingdom.
[18]
Department of Paediatrics, Cheltenham General Hospital, Gloucestershire, United Kingdom.
[19]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
[20]
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
[21]
Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
[22]
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
[23]
Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
[24]
Department of Radiology, Great Ormond Street Hospital, London, United Kingdom.
[25]
Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
[26]
Department of Psychiatry, New York University School of Medicine, New York, New York, USA.
[27]
School of Health and Behavioural Sciences, University of the Sunshine Coast, Sippy Downs, Queensland, Australia.
[28]
Sunshine Coast Health Institute, Birtinya, Queensland, Australia.
[29]
主题词
动物(Animals);张力失调(Dystonia);张力障碍(Dystonic Disorders);动作障碍(Movement Disorders);脯氨酸(Proline);RNA(RNA);斑马鱼(Zebrafish)
DOI
10.1002/mds.29147
PMID
35876425
发布时间
2023-02-23
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Movement disorders
Movement disorders
2139-2146页
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