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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: liszewski mk. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.
Macaron G, Khoury J, Hajj-Ali RA, Prayson RA, Srivastava S, Ehlers JP, Mamsa H, Liszewski MK, Jen JC, Bermel RA, Ontaneda D. Macaron G, et al. Among authors: liszewski mk. Mult Scler Relat Disord. 2021 Jul;52:103015. doi: 10.1016/j.msard.2021.103015. Epub 2021 May 7. Mult Scler Relat Disord. 2021. PMID: 34044261
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. Kavanagh D, et al. Among authors: liszewski mk. Cell Cycle. 2008 Jun 15;7(12):1718-25. doi: 10.4161/cc.7.12.6162. Epub 2008 Jun 16. Cell Cycle. 2008. PMID: 18583934 Free PMC article. Review.
Advances in understanding of pathogenesis of aHUS and HELLP.
Fang CJ, Richards A, Liszewski MK, Kavanagh D, Atkinson JP. Fang CJ, et al. Among authors: liszewski mk. Br J Haematol. 2008 Nov;143(3):336-48. doi: 10.1111/j.1365-2141.2008.07324.x. Epub 2008 Aug 4. Br J Haematol. 2008. PMID: 18691170 Free article. Review.
110 results