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Page 1
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: terwindt gm. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. Vanmolkot KR, et al. Among authors: terwindt gm. Hum Mutat. 2007 May;28(5):522. doi: 10.1002/humu.9486. Hum Mutat. 2007. PMID: 17397047
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM. Stam AH, et al. Among authors: terwindt gm. Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8. Clin Genet. 2008. PMID: 18400034
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. de Vries B, et al. Among authors: terwindt gm. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Arch Neurol. 2009. PMID: 19139306
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
Pelzer N, de Vries B, Boon EM, Kruit MC, Haan J, Ferrari MD, van den Maagdenberg AM, Terwindt GM. Pelzer N, et al. Among authors: terwindt gm. J Neurol. 2013 Aug;260(8):2188-90. doi: 10.1007/s00415-013-7050-8. Epub 2013 Jul 24. J Neurol. 2013. PMID: 23881107 No abstract available.
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: terwindt gm. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Kamp JA, Moursel LG, Haan J, Terwindt GM, Lesnik Oberstein SA, van Duinen SG, van Roon-Mom WM. Kamp JA, et al. Among authors: terwindt gm. Rev Neurosci. 2014;25(5):641-51. doi: 10.1515/revneuro-2014-0008. Rev Neurosci. 2014. PMID: 24870607 Free article. Review.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Stam AH, et al. Among authors: terwindt gm. Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. Brain. 2016. PMID: 27604306 Free PMC article.
RVCL-S and CADASIL display distinct impaired vascular function.
de Boer I, Stam AH, Buntinx L, Zielman R, van der Steen I, van den Maagdenberg AMJM, de Koning EJP, Ferrari MD, de Hoon JN, Terwindt GM. de Boer I, et al. Among authors: terwindt gm. Neurology. 2018 Sep 4;91(10):e956-e963. doi: 10.1212/WNL.0000000000006119. Epub 2018 Aug 3. Neurology. 2018. PMID: 30076273
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: terwindt gm. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
359 results