المؤلفون: van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, van Hasselt, Peter Marin, Engelen, Marc, van Haelst, Mieke, Smit, August Benjamin, van der Sluis, Sophie, Toonen, Ruud Franciscus, Verhage, Matthijs

المصدر: van Berkel , A A , Lammertse , H C A , Öttl , M , Koopmans , F , Misra-Isrie , M , Meijer , M , Dilena , R , van Hasselt , P M , Engelen , M , van Haelst , M , Smit , A B , van der Sluis , S , Toonen , R F & Verhage , M 2024 , ' Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons ' , Biological psychiatry global open science , vol. 4 , no. 1 , pp. ....

مصطلحات موضوعية: iPSC, MUNC18-1, Neurodevelopmental disorder, SNAREopathy, STXBP1-related disorder, Synaptic transmission

العلاقة: https://research.vu.nl/en/publications/44a3abbe-910b-48ed-ae9f-83f97e6fb6b8Test

الإتاحة: https://doi.org/10.1016/j.bpsgos.2023.05.004Test
https://research.vu.nl/en/publications/44a3abbe-910b-48ed-ae9f-83f97e6fb6b8Test
https://hdl.handle.net/1871.1/44a3abbe-910b-48ed-ae9f-83f97e6fb6b8Test
http://www.scopus.com/inward/record.url?scp=85169445566&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85169445566&partnerID=8YFLogxKTest

المؤلفون: Haiping Wang, Xiuli Chen, Zhanli Liu, Chen Chen, Xin Liu, Mingwei Huang, Zhuying Zhou

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: STXBP1-related disorder, Ohtahara syndrome, epilepsy, splice variant, functional study, RT-PCR, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1146875/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/8d5cc2fded604bf9b8d8c367a3e5fba6Test

المؤلفون: Haiping Wang, Xiuli Chen, Zhanli Liu, Chen Chen, Xin Liu, Mingwei Huang, Zhuying Zhou

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, STXBP1-related disorder, Ohtahara syndrome, epilepsy, splice variant, functional study, RT-PCR, intron retention, genotype-phenotype relationship

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_A_novel_STXBP1_splice_variant_and_the_landscape_of_splicing-involved_STXBP1-related_disorders_docx/22345477Test

الإتاحة: https://doi.org/10.3389/fneur.2023.1146875.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_A_novel_STXBP1_splice_variant_and_the_landscape_of_splicing-involved_STXBP1-related_disorders_docx/22345477Test

المؤلفون: Haiping Wang, Xiuli Chen, Zhanli Liu, Chen Chen, Xin Liu, Mingwei Huang, Zhuying Zhou

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, STXBP1-related disorder, Ohtahara syndrome, epilepsy, splice variant, functional study, RT-PCR, intron retention, genotype-phenotype relationship

العلاقة: https://figshare.com/articles/dataset/Table_1_Case_report_A_novel_STXBP1_splice_variant_and_the_landscape_of_splicing-involved_STXBP1-related_disorders_XLSX/22345480Test

الإتاحة: https://doi.org/10.3389/fneur.2023.1146875.s002Test
https://figshare.com/articles/dataset/Table_1_Case_report_A_novel_STXBP1_splice_variant_and_the_landscape_of_splicing-involved_STXBP1-related_disorders_XLSX/22345480Test