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Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Among authors: van agtmael t. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P. Alamowitch S, et al. Among authors: van agtmael t. Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12. Neurology. 2009. PMID: 19949034 Free PMC article.
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TW, Radmanesh F, Deka R, Woo JG, Martin LJ, Jimenez-Conde J, Selim M, Brown DL, Silliman SL, Kidwell CS, Montaner J, Langefeld CD, Slowik A, Hansen BM, Lindgren AG, Meschia JF, Fornage M, Bis JC, Debette S, Ikram MA, Longstreth WT, Schmidt R, Zhang CR, Yang Q, Sharma P, Kittner SJ, Mitchell BD, Holliday EG, Levi CR, Attia J, Rothwell PM, Poole DL, Boncoraglio GB, Psaty BM, Malik R, Rost N, Worrall BB, Dichgans M, Van Agtmael T, Woo D, Markus HS, Seshadri S, Rosand J, Sudlow CL; METASTROKE Consortium; CHARGE WMH Group; ISGC ICH GWAS Study Collaboration; WMH in Ischemic Stroke GWAS Study Collaboration; International Stroke Genetics Consortium. Rannikmäe K, et al. Among authors: van agtmael t. Neurology. 2015 Mar 3;84(9):918-26. doi: 10.1212/WNL.0000000000001309. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653287 Free PMC article.
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Murray LS, et al. Among authors: van regemorter n, van agtmael t. Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2. Hum Mol Genet. 2014. PMID: 24001601 Free PMC article.
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage.
Chung J, Hamilton G, Kim M, Marini S, Montgomery B, Henry J, Cho AE, Brown DL, Worrall BB, Meschia JF, Silliman SL, Selim M, Tirschwell DL, Kidwell CS, Kissela B, Greenberg SM, Viswanathan A, Goldstein JN, Langefeld CD, Rannikmae K, Sudlow CLM, Samarasekera N, Rodrigues M, Al-Shahi Salman R, Prendergast JGD, Harris SE, Deary I, Woo D, Rosand J, Van Agtmael T, Anderson CD. Chung J, et al. Among authors: van agtmael t. Neurology. 2021 Jul 19;97(3):e236-e247. doi: 10.1212/WNL.0000000000012227. Neurology. 2021. PMID: 34031201 Free PMC article.
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P. Plaisier E, et al. Among authors: van agtmael t. N Engl J Med. 2007 Dec 27;357(26):2687-95. doi: 10.1056/NEJMoa071906. N Engl J Med. 2007. PMID: 18160688 Free article.
34 results