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Year Number of Results
2018 4
2020 2
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2023 5
2024 1

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Page 1
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: broekman s. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.
Schellens RTW, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, Kremer H, De Vrieze E, Van Wijk E. Schellens RTW, et al. Among authors: broekman s. Mol Ther Nucleic Acids. 2023 May 20;32:980-994. doi: 10.1016/j.omtn.2023.05.020. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37313440 Free PMC article.
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J, de Vrieze E, Li CHZ, van Berkel E, Broekman S, Aben M, Peters T, Oostrik J, Neveling K, Venselaar H, Ramos MG, Gilissen C, Astuti GDN, Galbany JC, van Lith-Verhoeven JJC, Ockeloen CW, Haer-Wigman L, Hoyng CB, Cremers FPM, Kremer H, Roosing S, van Wijk E. Reurink J, et al. Among authors: broekman s. NPJ Genom Med. 2022 Jun 7;7(1):37. doi: 10.1038/s41525-022-00306-z. NPJ Genom Med. 2022. PMID: 35672333 Free PMC article.
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M. Toms M, et al. Among authors: broekman s. Hum Mol Genet. 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. Hum Mol Genet. 2020. PMID: 31998945 Free PMC article.
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E. Dulla K, et al. Among authors: broekman s. Mol Ther. 2021 Aug 4;29(8):2441-2455. doi: 10.1016/j.ymthe.2021.04.024. Epub 2021 Apr 23. Mol Ther. 2021. PMID: 33895329 Free PMC article.
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E. Dona M, et al. Among authors: broekman s. Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16. Exp Eye Res. 2018. PMID: 29777677 Free PMC article.
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. Among authors: broekman s. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
19 results