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Page 1
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: van bever y, van hagen jm, van den ende j, van aken e. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC. Hirst J, et al. Among authors: van aken e. Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27606357 Free PMC article.
Collagen type I: a substrate and a signal for invasion.
Van Hoorde L, Van Aken E, Mareel M. Van Hoorde L, et al. Among authors: van aken e. Prog Mol Subcell Biol. 2000;25:105-34. doi: 10.1007/978-3-642-59766-4_7. Prog Mol Subcell Biol. 2000. PMID: 10986721 Review. No abstract available.
Fructosamine-3-Kinase as a Potential Treatment Option for Age-Related Macular Degeneration.
De Bruyne S, Van den Broecke C, Vrielinck H, Khelifi S, De Wever O, Bracke K, Huizing M, Boston N, Himpe J, Speeckaert M, Vral A, Van Dorpe J, Van Aken E, Delanghe JR. De Bruyne S, et al. Among authors: van dorpe j, van den broecke c, van aken e. J Clin Med. 2020 Sep 4;9(9):2869. doi: 10.3390/jcm9092869. J Clin Med. 2020. PMID: 32899850 Free PMC article.
A Potential Role for Fructosamine-3-Kinase in Cataract Treatment.
De Bruyne S, van Schie L, Himpe J, De Somer F, Everaert I, Derave W, Van den Broecke C, Huizing M, Bostan N, Speeckaert M, Callewaert N, Van Aken E, Delanghe JR. De Bruyne S, et al. Among authors: van aken e. Int J Mol Sci. 2021 Apr 7;22(8):3841. doi: 10.3390/ijms22083841. Int J Mol Sci. 2021. PMID: 33917258 Free PMC article.
Cadherin expression in the eye.
Van Aken E, Papeleu P, De Potter P, De Laey JJ, Mareel M. Van Aken E, et al. Bull Soc Belge Ophtalmol. 2000;(278):55-9. Bull Soc Belge Ophtalmol. 2000. PMID: 11761562 Review.
50 results