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Page 1
Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup.
Vallbona-Garcia A, Lindsey PJ, Kamps R, Stassen APM, Nguyen N, van Tienen FHJ, Hamers IHJ, Hardij R, van Gisbergen MW, Benedikter BJ, de Coo IFM, Webers CAB, Gorgels TGMF, Smeets HJM. Vallbona-Garcia A, et al. Among authors: van tienen fhj. Front Ophthalmol (Lausanne). 2024 Jan 17;3:1309836. doi: 10.3389/fopht.2023.1309836. eCollection 2023. Front Ophthalmol (Lausanne). 2024. PMID: 38983060 Free PMC article.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.
Vallbona-Garcia A, Hamers IHJ, van Tienen FHJ, Ochoteco-Asensio J, Berendschot TTJM, de Coo IFM, Benedikter BJ, Webers CAB, Smeets HJM, Gorgels TGMF. Vallbona-Garcia A, et al. Among authors: van tienen fhj. Exp Eye Res. 2023 Jul;232:109500. doi: 10.1016/j.exer.2023.109500. Epub 2023 May 11. Exp Eye Res. 2023. PMID: 37178956 Free article.
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.
Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Hubens WHG, et al. Among authors: van tienen fhj. Mitochondrion. 2022 Jan;62:187-204. doi: 10.1016/j.mito.2021.10.008. Epub 2021 Nov 2. Mitochondrion. 2022. PMID: 34740866 Free article. Review.
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt SCEH, Hellebrekers DMEI, Jacobs EH, Sadeghi-Niaraki F, van Tienen FHJ, Smeets HJM, Gerards M. Guo L, et al. Among authors: van tienen fhj. Eur J Hum Genet. 2021 Dec;29(12):1789-1795. doi: 10.1038/s41431-021-00947-1. Epub 2021 Aug 23. Eur J Hum Genet. 2021. PMID: 34426662 Free PMC article.
Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle.
Boyer O, Butler-Browne G, Chinoy H, Cossu G, Galli F, Lilleker JB, Magli A, Mouly V, Perlingeiro RCR, Previtali SC, Sampaolesi M, Smeets H, Schoewel-Wolf V, Spuler S, Torrente Y, Van Tienen F; Study Group. Boyer O, et al. Among authors: van tienen f. Front Genet. 2021 Aug 2;12:702547. doi: 10.3389/fgene.2021.702547. eCollection 2021. Front Genet. 2021. PMID: 34408774 Free PMC article. Review.
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