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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders |
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| Authors: | Wai Yan Yau FRACP Jana Vandrovcova PhD Roisin Sullivan MSc Zhongbo Chen MRCP Anna Zecchinelli MD Roberto Cilia MD Stefano Duga PhD Malgorzata Murray MSc Susana Carmona PhD Genomics England Research Consortium Viorica Chelban MRCP Hiroyuki Ishiura MD PhD Shoji Tsuji MD PhD Zane Jaunmuktane FRCPath Chris Turner FRCP PhD Nicholas W. Wood FRCP PhD Henry Houlden FRCP PhD |
| Affiliation: | 1. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom;2. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom Wai Yan Yau and Jana Vandrovcova contributed equally to this study.;3. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom;4. Biobank Centro Parkinson e Parkinsonismi ASST Pini CTO, Milan, Italy;5. Fondazione IRCCS Istituto Neurologico Carlo Besta, Parkinson and Movement Disorders Unit, Milan, Italy;6. Department of Biomedical Sciences, Humanitas University, Milan, Italy IRCCS Istituto Clinico Humanitas, Rozzano, Milan, Italy;7. UK Dementia Research Institute (UK DRI) at UCL, London, United Kingdom;8. Genomics England, London, UK;9. Department of Neurology, The University of Tokyo, Tokyo, Japan;10. Department of Molecular Neurology, The University of Tokyo, Tokyo, Japan Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan;11. Divison of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom;12. MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom;13. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom;14. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom |
| Abstract: | |
| Keywords: | trinucleotide repeat diseases spinocerebellar ataxia Parkinson's disease tremor multiple system atrophy |