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Page 1
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: stam ah. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Migraine: new treatment options from molecular biology.
Stam AH, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Stam AH, et al. Expert Rev Neurother. 2005 Sep;5(5):653-61. doi: 10.1586/14737175.5.5.653. Expert Rev Neurother. 2005. PMID: 16162089 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: stam ah. 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: stam ah. 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
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KRJ, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AMJM. Castro MJ, et al. Among authors: stam ah. J Hum Genet. 2007;52(12):990-998. doi: 10.1007/s10038-007-0205-7. Epub 2007 Oct 19. J Hum Genet. 2007. PMID: 17952365
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM, Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. de Vries B, et al. Among authors: stam ah. Neurology. 2007 Dec 4;69(23):2170-6. doi: 10.1212/01.wnl.0000295670.01629.5a. Neurology. 2007. PMID: 18056581 Free article.
A review of the genetic relation between migraine and epilepsy.
Haan J, Terwindt GM, van den Maagdenberg AM, Stam AH, Ferrari MD. Haan J, et al. Among authors: stam ah. Cephalalgia. 2008 Feb;28(2):105-13. doi: 10.1111/j.1468-2982.2007.01460.x. Cephalalgia. 2008. PMID: 18197881 Review.
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. 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
54 results