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Prime editing for functional repair in patient-derived disease models.
Schene IF, Joore IP, Oka R, Mokry M, van Vugt AHM, van Boxtel R, van der Doef HPJ, van der Laan LJW, Verstegen MMA, van Hasselt PM, Nieuwenhuis EES, Fuchs SA. Schene IF, et al. Among authors: van hasselt pm, van der doef hpj, van der laan ljw, van boxtel r, van vugt ahm. Nat Commun. 2020 Oct 23;11(1):5352. doi: 10.1038/s41467-020-19136-7. Nat Commun. 2020. PMID: 33097693 Free PMC article.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S. Wiegerinck CL, et al. Among authors: van hasselt pm, van haaften g, van haaften visser dy. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ. van Haaften-Visser DY, et al. Among authors: van hasselt pm, van haelst mm, van montfrans jm. J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302725 Free PMC article.
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. Among authors: van genderen mm, van hasselt pm, van alfen c. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Among authors: van der crabben sn, van hasselt pm, van gassen kli. Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875423 Free PMC article.
Motor function impairment is an early sign of CLN3 disease.
Kuper WFE, van Alfen C, van Eck L, Huijgen BCH, Nieuwenhuis EES, van Brussel M, van Hasselt PM. Kuper WFE, et al. Among authors: van hasselt pm, van brussel m, van alfen c, van eck l. Neurology. 2019 Jul 16;93(3):e293-e297. doi: 10.1212/WNL.0000000000007773. Epub 2019 Jun 10. Neurology. 2019. PMID: 31182507
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Schwantje M, et al. Among authors: van hasselt pm. J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13. J Inherit Metab Dis. 2020. PMID: 31605543 Free PMC article. Review.
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE, Oostendorp M, van den Broek BTA, van Veghel K, Nonkes LJP, Nieuwenhuis EES, Fuchs SA, Veenendaal T, Klumperman J, Huisman A, Nierkens S, van Hasselt PM. Kuper WFE, et al. Among authors: van hasselt pm, van den broek bta, van veghel k. JIMD Rep. 2020 Jun 2;54(1):87-97. doi: 10.1002/jmd2.12128. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685355 Free PMC article.
158 results