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Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

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Title: Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.
Authors: Huang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China., Jiang Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China., Liu P; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Gong Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Lei L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Chen J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Wang C; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China., Wan L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; National International Collaborative Research Center for Medical Metabolomics, Central South University, Changsha, 410008, China.; Department of Radiology, Xiangya Hospital, Central South University, Changsha, 410008, China., He L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Peng L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China., Qiu R; School of Computer Science and Engineering, Central South University, Changsha, 410083, China., Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China., Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Department of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China. jianghong73868@csu.edu.cn.; National International Collaborative Research Center for Medical Metabolomics, Central South University, Changsha, 410008, China. jianghong73868@csu.edu.cn.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China. jianghong73868@csu.edu.cn.; Furong Laboratory, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Brain Research Center, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.
Source: Cerebellum (London, England) [Cerebellum] 2025 Aug 22; Vol. 24 (5), pp. 144. Date of Electronic Publication: 2025 Aug 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.
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  Data: <searchLink fieldCode="AU" term="%22Huang+X%22">Huang X</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Chen+Z%22">Chen Z</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Jiang+Q%22">Jiang Q</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.<br /><searchLink fieldCode="AU" term="%22Liu+P%22">Liu P</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Gong+Y%22">Gong Y</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Lei+L%22">Lei L</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Wang+C%22">Wang C</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Wan+L%22">Wan L</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; National International Collaborative Research Center for Medical Metabolomics, Central South University, Changsha, 410008, China.; Department of Radiology, Xiangya Hospital, Central South University, Changsha, 410008, China.<br /><searchLink fieldCode="AU" term="%22He+L%22">He L</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Peng+L%22">Peng L</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.<br /><searchLink fieldCode="AU" term="%22Qiu+R%22">Qiu R</searchLink>; School of Computer Science and Engineering, Central South University, Changsha, 410083, China.<br /><searchLink fieldCode="AU" term="%22Tang+B%22">Tang B</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Jiang+H%22">Jiang H</searchLink>; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Department of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Bioinformatics Center & National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, China. jianghong73868@csu.edu.cn.; National International Collaborative Research Center for Medical Metabolomics, Central South University, Changsha, 410008, China. jianghong73868@csu.edu.cn.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China. jianghong73868@csu.edu.cn.; Furong Laboratory, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.; Brain Research Center, Central South University, Changsha, Hunan, 410008, China. jianghong73868@csu.edu.cn.
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  Data: <searchLink fieldCode="JN" term="%22101089443%22">Cerebellum (London, England)</searchLink> [Cerebellum] 2025 Aug 22; Vol. 24 (5), pp. 144. <i>Date of Electronic Publication: </i>2025 Aug 22.
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              Text: 2025 Aug 22
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