요약정보
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
- Resource Type
- Academic Journal
- Authors
- Lee S; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Yoon JG; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Hong J; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim T; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim N; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Vandrovcova J; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Yau WY; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Cho J; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim S; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim MJ; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim SY; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Lee ST; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Chu K; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Lee SK; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Kim HJ; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Choi J; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Moon J; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.; Chae JH; From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital, Korea; Department of Neuromuscular Diseases (J.V.), Institute of Neurology, University College London, United Kingdom; Perron Institute for Neurological and Translational Science (W.Y.Y.), the University of Western Australia, Nedlands, Australia; and Department of Laboratory Medicine (M.J.K.), Seoul National University Hospital, Korea.
- Source
- Publisher:
Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN:23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE - Subject
- Language
- English
- ISSN
- 2376-7839