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Expanding the phenotypic spectrum of <i>CLCN2</i>-related leucoencephalopathy and ataxia.

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第一作者: Paulo R,Nóbrega
第一单位: Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.;Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.
作者单位: Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.;Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil. [1] Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.;Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil.;Department of Neurology, São Rafael Hospital, Rede D'Or São Luiz, Salvador, Bahia 41253-190, Brazil. [2] Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil. [3] Center of Health Science, State University of Ceara, Fortaleza, Ceara 3101-9795, Brazil. [4] Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil. [5] Universidade Federal de Goias, Goiania, Goias 74690-900, Brazil. [6] Hospital Geral de Fortaleza, Fortaleza, Ceara 60150-160, Brazil.;Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil. [7] Hospital de Clínicas, Universidade Federal de Uberlândia, Uberlandia, Minas Gerais 38405-320, Brazil. [8] Division of Radiology, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil. [9] Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil.;University Hospital, EBSERH/Federal University of Sergipe, Aracaju, Sergipe 49060-676, Brazil. [10] Universidade de Fortaleza, Fortaleza, Ceara 60811-905, Brazil.;Hospital Infantil Albert Sabin, Fortaleza, Ceara 60410-794, Brazil. [11] Prevent Senior, Sao Paulo, Sao Paulo 01401-001, Brazil. [12] Paris Brain Institute (ICM), Paris 75013, France. [13] Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Sao Paulo 04021-001, Brazil. [14] Centre for Clinical Diagnostics, Haematology and Haemotherapy Centre of Ceara (HEMOCE), Fortaleza, Ceara 60416-130, Brazil.;Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7BE, UK. [15] Analytical Competence Molecular Epidemiology Lab (ACME), Oswaldo Cruz Foundation (Fiocruz), Fortaleza, Ceara 61773-270, Brazil.;Postgraduate Program in Medical Sciences, Federal University of Ceará (UFC), Fortaleza, Ceara 60020-181, Brazil. [16] Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. [17] Queen Square MS Centre, UCL Institute of Neurology, London WC1N 3BG, UK. [18] Birmingham Children's Hospital, Birmingham, Birmingham B4 6NH, UK. [19] West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK. [20] University Hospital Birmingham, Birmingham B15 2GW, UK. [21] Department of Neurology, University of Würzburg, Essen 97080, Germany. [22] Neurogenetics Unit, Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Sao Paulo 05403-000, Brazil.;Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 02511-000, Brazil. [23] Neuroradiology Section, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Sao Paulo, Sao Paulo 05403-010, Brazil.;Grupo Fleury, São Paulo, São Paulo 01333-011, Brazil. [24] Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.;National Hospital for Neurology & Neurosurgery, London WC1N 3BG, UK. [25] Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen 45147, Germany. [26] Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza, Ceara 60430-160, Brazil.;Center of Health Science, State University of Ceara, Fortaleza, Ceara 3101-9795, Brazil.;Postgraduate Program in Medical Sciences, Federal University of Ceará (UFC), Fortaleza, Ceara 60020-181, Brazil. [27]
DOI 10.1093/braincomms/fcad273
PMID 38173802
发布时间 2024-03-02
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2024年6卷1期

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