Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
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| Title: | Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism. |
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| Authors: | Lim SM; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard University and MIT, Cambridge, MA, USA., Kim S; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea., Park J; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Kim YE; Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Republic of Korea., Na OC; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Nahm M; Dementia Research Group, Korea Brain Research Institute, Daegu, Republic of Korea., Noh MY; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Oh KW; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea., Ki CS; GC Genome, Yongin, Republic of Korea., Shin WH; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Republic of Korea., Park HC; Department of Convergence Medicine, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea. hcpark67@korea.ac.kr., Kim SH; Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr.; Cell Therapy Center, Hanyang University Hospital, Seoul, Republic of Korea. kimsh1@hanyang.ac.kr. |
| Source: | Journal of translational medicine [J Transl Med] 2026 May 11; Vol. 24 (1). Date of Electronic Publication: 2026 May 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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