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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

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作者: V,Chelban [1] ; M,Alsagob [2] ; K,Kloth [3] ; A,Chirita-Emandi [4] ; J,Vandrovcova [5] ; R,Maroofian [1] ; I,Davagnanam [6] ; S,Bakhtiari [7] ; M D,AlSayed [8] ; Z,Rahbeeni [9] ; H,AlZaidan [10] ; N T,Malintan [10] ; J,Johannsen [10] ; S,Efthymiou [11] ; E,Ghayoor Karimiani [12] ; K,Mankad [1] ; S A,Al-Shahrani [6] ; M,Beiraghi Toosi [13] ; M,AlShammari [10] ; S,Groppa [14] ; N A,Haridy [3] ; L,AlQuait [2] ; A,Qari [1] ; R,Huma [15] ; M A,Salih [3] ; R,Almass [10] ; F B,Almutairi [10] ; M H,Hamad [16] ; I A,Alorainy [3] ; K,Ramzan [3] ; F,Imtiaz [16] ; M,Puiu [17] ; M C,Kruer [3] ; T,Bierhals [3] ; N W,Wood [5] ; D,Colak [8] ; H,Houlden [9] ; N,Kaya [4]
作者单位: Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK. [1] Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova. [2] Department of Genetics, KFSHRC, Riyadh, Saudi Arabia. [3] Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany. [4] Genetics Department, University 'Victor Babes', Timisoara, Romania. [5] Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK. [6] Brain Repair and Rehabilitation, University College London Institute of Neurology, London, UK. [7] Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. [8] Department of Child Health, Cellular and Molecular Medicine, Department of Neurology, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA. [9] Medical Genetics, KFSHRC, Riyadh, Saudi Arabia. [10] Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK. [11] Department of Paediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany. [12] Great Ormond Street Hospitals, London, UK. [13] Department of Paediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. [14] Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt. [15] Neurology Division, Department of Pediatrics, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia. [16] Department of Radiology & Medical Imaging, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia. [17] Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia. [18]
DOI 10.1111/ene.14082
PMID 31509304
发布时间 2022-01-29
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European journal of neurology

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