GGC重复扩张NOTCH2NLC在台湾遗传性疾病患者

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.

从神经学部门(研究。首页l,Y.-T.C., S.-L.H., K.J., Y.-H.L., C.-T.H., K.-P.K.P.L., Y.-C. L.), Pathology (F.-P.C.), and Laboratory Medicine (F.-P.C.), Taipei Veterans General Hospital; Department of Neurology (Y.-C.L., K.J., C.-T.H., K.-P.K.P.L., Y.-C. L.), Brain Research Center (Y.-C.L., Y.-C. L.), and Institute of Clinical Medicine (F.-P.C.), National Yang Ming Chao Tung University School of Medicine, Taipei; Department of Neurology (H.-W.H., C.-C.K.L.), School of Medicine, National Cheng Kung University Hospital, Tainan; Department of Neurology (T.-B.C.), Neurological Institute, Taichung Veterans General Hospital, Taiwan; Departments of Human Genetics (H.F., T.M., N.M.) and Neurology and Stroke Medicine (H.F.), Yokohama City University Graduate School of Medicine, Japan; Northcott Neuroscience Laboratory (M.K.), ANZAC Research Institute, Concord; Sydney Medical School (M.K.), University of Sydney; and Molecular Medicine Laboratory (M.K.), Concord Hospital, NSW, Australia.