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Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

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第一作者: Colin,Smith
第一单位: Academic Department of Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
作者单位: Academic Department of Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK. [1] Centre for Discovery Brain Sciences, UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK. [2] The Roslin Institute, University of Edinburgh, Edinburgh, UK. [3] Academic Department of Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.;Centre for Discovery Brain Sciences, UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK. [4] Department of Paediatrics, Bay of Plenty District Health Board, Tauranga Hospital, Tauranga, New Zealand. [5] Paediatric Neurology Department, St Georges Healthcare NHS Trust, London, UK. [6] Genetic Health Service New Zealand, Auckland District Health Board, Auckland City Hospital, Auckland, New Zealand. [7] Department of Clinical Genetics, SW Thames Regional Genetics Service, St George's Hospital, University of London, London, UK. [8] Department of Paediatric Neurology, Starship Children's Health, Auckland, New Zealand. [9] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. [10] Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France. [11] Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. [12] Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK. [13] Department of Cellular Pathology, St George's University Hospitals NHS Foundation Trust, London, UK. [14] Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France. yanickcrow@mac.com.;Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com. [15]
DOI 10.1007/s00401-020-02137-7
PMID 32100099
发布时间 2025-05-30
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