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Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.

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Title: Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.
Authors: Lu R; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China., Xu Y; Institute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China., Li H; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.; Department of Neurosurgery, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen, 361006, China., Xiong M; State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, 200032, China., Zhou W; Division of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China., Feng W; Institute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China. fengweijun@fudan.edu.cn.; Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen, 361006, China. fengweijun@fudan.edu.cn., Zhao R; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China. dr_zhaorui@sina.com.; Department of Neurosurgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China. dr_zhaorui@sina.com.
Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Dec 27; Vol. 75 (1), pp. 3. Date of Electronic Publication: 2024 Dec 27.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Lu+R%22">Lu R</searchLink>; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Xu+Y%22">Xu Y</searchLink>; Institute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.; Department of Neurosurgery, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen, 361006, China.<br /><searchLink fieldCode="AU" term="%22Xiong+M%22">Xiong M</searchLink>; State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, 200032, China.<br /><searchLink fieldCode="AU" term="%22Zhou+W%22">Zhou W</searchLink>; Division of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.<br /><searchLink fieldCode="AU" term="%22Feng+W%22">Feng W</searchLink>; Institute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China. fengweijun@fudan.edu.cn.; Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen, 361006, China. fengweijun@fudan.edu.cn.<br /><searchLink fieldCode="AU" term="%22Zhao+R%22">Zhao R</searchLink>; Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China. dr_zhaorui@sina.com.; Department of Neurosurgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China. dr_zhaorui@sina.com.
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  Data: <searchLink fieldCode="JN" term="%229002991%22">Journal of molecular neuroscience : MN</searchLink> [J Mol Neurosci] 2024 Dec 27; Vol. 75 (1), pp. 3. <i>Date of Electronic Publication: </i>2024 Dec 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Humana+Press%22">Humana Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9002991 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1559-1166 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208958696%22">08958696 </searchLink><i>NLM ISO Abbreviation: </i>J Mol Neurosci <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s12031-024-02304-5
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            – D: 27
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              Text: 2024 Dec 27
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              Y: 2024
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