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. |
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| 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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| ISSN: | 1559-1166 |
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| DOI: | 10.1007/s12031-024-02304-5 |
