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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: storimans cw. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Familial vascular retinopathy. A preliminary report.
Storimans CW, Oosterhuis JA, van Schooneveld MJ, Bos PJ, Maaswinkel-Mooy PD. Storimans CW, et al. Doc Ophthalmol. 1990 Oct;75(3-4):259-61. doi: 10.1007/BF00164839. Doc Ophthalmol. 1990. PMID: 2090400
A new autosomal dominant vascular retinopathy syndrome.
Storimans CW, Van Schooneveld MJ, Oosterhuis JA, Bos PJ. Storimans CW, et al. Eur J Ophthalmol. 1991 Apr-Jun;1(2):73-8. doi: 10.1177/112067219100100204. Eur J Ophthalmol. 1991. PMID: 1821204
[With an eye on... the champagne cork].
Keunen JE, Storimans CW. Keunen JE, et al. Among authors: storimans cw. Ned Tijdschr Geneeskd. 1994 Dec 24;138(52):2594-6. Ned Tijdschr Geneeskd. 1994. PMID: 7808531 Dutch.