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Page 1
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Among authors: boesten ib. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Among authors: boesten i. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.
Otten AB, Theunissen TE, Derhaag JG, Lambrichs EH, Boesten IB, Winandy M, van Montfoort AP, Tarbashevich K, Raz E, Gerards M, Vanoevelen JM, van den Bosch BJ, Muller M, Smeets HJ. Otten AB, et al. Among authors: boesten ib. Cell Rep. 2016 Jul 19;16(3):622-30. doi: 10.1016/j.celrep.2016.06.023. Epub 2016 Jun 30. Cell Rep. 2016. PMID: 27373161 Free article.
A time window for rescuing dying retinal ganglion cells.
You W, Knoops K, Boesten I, Berendschot TTJM, van Zandvoort MAMJ, Benedikter BJ, Webers CAB, Reutelingsperger CPM, Gorgels TGMF. You W, et al. Among authors: boesten i. Cell Commun Signal. 2024 Jan 31;22(1):88. doi: 10.1186/s12964-023-01427-3. Cell Commun Signal. 2024. PMID: 38297331 Free PMC article.
Antiplatelet and Anticoagulant Drugs Do Not Affect Visual Outcome in Neovascular Age-Related Macular Degeneration in the BRAMD Trial.
Buitendijk GHS, Schauwvlieghe AME, Vingerling JR, Schlingemann RO, Klaver CCW; comparing Bevacizumab to Ranibizumab in Age-related macular degeneration (BRAMD) Trial Research Group. Buitendijk GHS, et al. Am J Ophthalmol. 2018 Mar;187:130-137. doi: 10.1016/j.ajo.2018.01.003. Epub 2018 Jan 9. Am J Ophthalmol. 2018. PMID: 29330064 Clinical Trial.