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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: ferrari md. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Migraine genetics.
Kors E, Haan J, Ferrari M. Kors E, et al. Curr Pain Headache Rep. 2003 Jun;7(3):212-7. doi: 10.1007/s11916-003-0075-4. Curr Pain Headache Rep. 2003. PMID: 12720601 Review.
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: ferrari md. 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.
Recent findings in headache genetics.
Kors EE, Vanmolkot KR, Haan J, Frants RR, van den Maagdenberg AM, Ferrari MD. Kors EE, et al. Among authors: ferrari md. Curr Opin Neurol. 2004 Jun;17(3):283-8. doi: 10.1097/00019052-200406000-00008. Curr Opin Neurol. 2004. PMID: 15167062 Review.
549 results