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HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

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作者单位: Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.;Department of Neurology, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.;Department of Medicine, Division of Neurology, Children' s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. [1] Department of Paediatrics, Division of Neuropediatrics and Social Pediatrics, RWTH Aachen University Hospital, Aachen, Germany. [2] Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany. [3] John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. [4] Department of Neuropathology, Humboldt-Universität zu Berlin and Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Berlin, Germany. [5] Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University Munich, Munich, Germany. [6] Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany. [7] Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany. [8] Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.;Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany. [9] Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada. [10] Department of Medicine, Division of Neurology, Children' s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.;Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.;Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany. [11] Department of Diagnostic and Interventional Radiology, University Hospital RWTH, Aachen, Germany. [12] Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V. Dortmund, Germany.;Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada.;Department of Internal Medicine, University of Manitoba, Winnipeg, Canada.;Manitoba Centre for Proteomics and Systems Biology, University of Manitoba, Winnipeg, Canada.;Cancer Care Manitoba Research Institute, Winnipeg, Canada. [13]
DOI 10.3233/JND-240050
PMID 39121134
发布时间 2024-10-28
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Journal of neuromuscular diseases

Journal of neuromuscular diseases

2024年11卷5期

1131-1137页

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