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Intrinsic Myogenic Potential of Skeletal Muscle-Derived Pericytes from Patients with Myotonic Dystrophy Type 1.
Ausems CRM, Raaijmakers RHL, van den Broek WJAA, Willemse M, van Engelen BGM, Wansink DG, van Bokhoven H. Ausems CRM, et al. Among authors: van engelen bgm, van den broek wjaa, van bokhoven h. Mol Ther Methods Clin Dev. 2019 Sep 12;15:120-132. doi: 10.1016/j.omtm.2019.09.002. eCollection 2019 Dec 13. Mol Ther Methods Clin Dev. 2019. PMID: 31649961 Free PMC article.
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Hommersom MP, Buijsen RAM, van Roon-Mom WMC, van de Warrenburg BPC, van Bokhoven H. Hommersom MP, et al. Among authors: van roon mom wmc, van bokhoven h, van de warrenburg bpc. Stem Cell Rev Rep. 2022 Feb;18(2):441-456. doi: 10.1007/s12015-021-10184-0. Epub 2021 May 25. Stem Cell Rev Rep. 2022. PMID: 34031815 Free PMC article. Review.
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.
Mossink B, Verboven AHA, van Hugte EJH, Klein Gunnewiek TM, Parodi G, Linda K, Schoenmaker C, Kleefstra T, Kozicz T, van Bokhoven H, Schubert D, Nadif Kasri N, Frega M. Mossink B, et al. Among authors: van hugte ejh, van bokhoven h. Stem Cell Reports. 2021 Sep 14;16(9):2182-2196. doi: 10.1016/j.stemcr.2021.07.001. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329594 Free PMC article.
Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9.
Hommersom MP, Bijnagte-Schoenmaker C, Albert S, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: van bokhoven h, van de warrenburg bpc. Stem Cell Res. 2022 May;61:102730. doi: 10.1016/j.scr.2022.102730. Epub 2022 Feb 26. Stem Cell Res. 2022. PMID: 35286975 Free article.
MicroRNA-137 Controls AMPA-Receptor-Mediated Transmission and mGluR-Dependent LTD.
Olde Loohuis NF, Ba W, Stoerchel PH, Kos A, Jager A, Schratt G, Martens GJ, van Bokhoven H, Nadif Kasri N, Aschrafi A. Olde Loohuis NF, et al. Among authors: van bokhoven h. Cell Rep. 2015 Jun 30;11(12):1876-84. doi: 10.1016/j.celrep.2015.05.040. Epub 2015 Jun 18. Cell Rep. 2015. PMID: 26095359 Free article.
ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function.
Ba W, Selten MM, van der Raadt J, van Veen H, Li LL, Benevento M, Oudakker AR, Lasabuda RSE, Letteboer SJ, Roepman R, van Wezel RJA, Courtney MJ, van Bokhoven H, Nadif Kasri N. Ba W, et al. Among authors: van veen h, van bokhoven h, van der raadt j, van wezel rja. Cell Rep. 2016 Feb 16;14(6):1355-1368. doi: 10.1016/j.celrep.2016.01.037. Epub 2016 Feb 4. Cell Rep. 2016. PMID: 26854232 Free article.
Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape.
Qu J, Tanis SEJ, Smits JPH, Kouwenhoven EN, Oti M, van den Bogaard EH, Logie C, Stunnenberg HG, van Bokhoven H, Mulder KW, Zhou H. Qu J, et al. Among authors: van den bogaard eh, van bokhoven h. Cell Rep. 2018 Dec 18;25(12):3490-3503.e4. doi: 10.1016/j.celrep.2018.11.039. Cell Rep. 2018. PMID: 30566872 Free article.
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ. van Tol W, et al. Among authors: van beusekom e, van bokhoven h, van scherpenzeel m. Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2. Clin Chem. 2019. PMID: 31375477
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N. Frega M, et al. Among authors: van bokhoven h. Cell Rep. 2020 Jan 7;30(1):173-186.e6. doi: 10.1016/j.celrep.2019.12.002. Cell Rep. 2020. PMID: 31914384 Free article.
330 results