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Page 1
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
Patel AM, Wierda K, Thorrez L, van Putten M, De Smedt J, Ribeiro L, Tricot T, Gajjar M, Duelen R, Van Damme P, De Waele L, Goemans N, Tanganyika-de Winter C, Costamagna D, Aartsma-Rus A, van Duyvenvoorde H, Sampaolesi M, Buyse GM, Verfaillie CM. Patel AM, et al. Among authors: van duyvenvoorde h, van damme p, van putten m. Transl Psychiatry. 2019 Aug 21;9(1):200. doi: 10.1038/s41398-019-0535-1. Transl Psychiatry. 2019. PMID: 31434868 Free PMC article.
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.
Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A. Synofzik M, et al. Among authors: van duyvenvoorde ha, van roon mom wmc. Nucleic Acid Ther. 2022 Apr;32(2):83-94. doi: 10.1089/nat.2021.0039. Epub 2021 Sep 29. Nucleic Acid Ther. 2022. PMID: 34591693 Free PMC article.
Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.
Koeks Z, Janson AA, Beekman C, Signorelli M, van Duyvenvoorde HA, van den Bergen JC, Hooijmans MT, Alleman I, Hegeman IM, Verschuuren JJGM, V Deutekom JC, Spitali P, Datson NA, Niks EH. Koeks Z, et al. Among authors: van duyvenvoorde ha, van den bergen jc. Sci Rep. 2021 Mar 15;11(1):5952. doi: 10.1038/s41598-021-84863-w. Sci Rep. 2021. PMID: 33723284 Free PMC article.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: van duyvenvoorde ha. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. Walenkamp MJ, et al. J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18. J Clin Endocrinol Metab. 2008. PMID: 18349070
48 results