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A missense mutation in human INSC causes peripheral neuropathy.

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Title: A missense mutation in human INSC causes peripheral neuropathy.
Authors: Yeh JY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Chao HC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Division of Neurology, Department of Medicine, Taoyuan General Hospital, Ministry of Health and Welfare, Taoyuan, Taiwan., Hong CL; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Hung YC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Tzou FY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan., Hsiao CT; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Li JL; Ph.D. Program in Translational Medicine, National Taiwan University and Academia Sinica, Taipei, Taiwan.; Department of Neurology, National Taiwan University Hospital Jinshan Branch, New Taipei City, Taiwan., Chen WJ; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Cheng Kung University and Academia Sinica, Tapiei, Taiwan., Chou CT; Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan., Tsai YS; Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liao YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan., Lin YC; Institute of Molecular Medicine, National Tsing Hua University, HsinChu, Taiwan.; Department of Medical Science, National Tsing Hua University, HsinChu, Taiwan., Lin S; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan., Huang SY; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia., Lee YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw., Chan CC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan. chancc1@ntu.edu.tw.
Source: EMBO molecular medicine [EMBO Mol Med] 2024 May; Vol. 16 (5), pp. 1091-1114. Date of Electronic Publication: 2024 Apr 08.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A missense mutation in human INSC causes peripheral neuropathy.
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  Data: <searchLink fieldCode="AU" term="%22Yeh+JY%22">Yeh JY</searchLink>; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chao+HC%22">Chao HC</searchLink>; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Division of Neurology, Department of Medicine, Taoyuan General Hospital, Ministry of Health and Welfare, Taoyuan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hong+CL%22">Hong CL</searchLink>; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hung+YC%22">Hung YC</searchLink>; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tzou+FY%22">Tzou FY</searchLink>; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsiao+CT%22">Hsiao CT</searchLink>; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Li+JL%22">Li JL</searchLink>; Ph.D. Program in Translational Medicine, National Taiwan University and Academia Sinica, Taipei, Taiwan.; Department of Neurology, National Taiwan University Hospital Jinshan Branch, New Taipei City, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+WJ%22">Chen WJ</searchLink>; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Cheng Kung University and Academia Sinica, Tapiei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chou+CT%22">Chou CT</searchLink>; Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tsai+YS%22">Tsai YS</searchLink>; Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Liao+YC%22">Liao YC</searchLink>; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+YC%22">Lin YC</searchLink>; Institute of Molecular Medicine, National Tsing Hua University, HsinChu, Taiwan.; Department of Medical Science, National Tsing Hua University, HsinChu, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+SY%22">Huang SY</searchLink>; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Kennerson+M%22">Kennerson M</searchLink>; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+YC%22">Lee YC</searchLink>; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.<br /><searchLink fieldCode="AU" term="%22Chan+CC%22">Chan CC</searchLink>; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan. chancc1@ntu.edu.tw.
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  Data: <searchLink fieldCode="JN" term="%22101487380%22">EMBO molecular medicine</searchLink> [EMBO Mol Med] 2024 May; Vol. 16 (5), pp. 1091-1114. <i>Date of Electronic Publication: </i>2024 Apr 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101487380 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-4684 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217574676%22">17574676 </searchLink><i>NLM ISO Abbreviation: </i>EMBO Mol Med <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s44321-024-00062-w
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      – Code: eng
        Text: English
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      – TitleFull: A missense mutation in human INSC causes peripheral neuropathy.
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