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Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Ophoff RA, et al. Among authors: terwindt gm. Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28. Am J Hum Genet. 2001. PMID: 11438888 Free PMC article.
Toward a molecular genetic classification of familial hemiplegic migraine.
Haan J, Kors EE, van den Maagdenberg AM, Vanmolkot KR, Terwindt GM, Frants RR, Ferrari MD. Haan J, et al. Among authors: terwindt gm. Curr Pain Headache Rep. 2004 Jun;8(3):238-43. doi: 10.1007/s11916-004-0058-0. Curr Pain Headache Rep. 2004. PMID: 15115644 Review.
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
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Vanmolkot KR, et al. Among authors: terwindt gm. Eur J Hum Genet. 2007 Aug;15(8):884-8. doi: 10.1038/sj.ejhg.5201841. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473835
Migraine: gene mutations and functional consequences.
van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. van den Maagdenberg AM, et al. Among authors: terwindt gm. Curr Opin Neurol. 2007 Jun;20(3):299-305. doi: 10.1097/WCO.0b013e3281338d1f. Curr Opin Neurol. 2007. PMID: 17495624 Review.
341 results