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87 results

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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: jen jc. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Stam AH, et al. Among authors: jen jc. Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. Brain. 2016. PMID: 27604306 Free PMC article.
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: jen jc. 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
Neuropathology and genetics of cerebroretinal vasculopathies.
Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Kolar GR, et al. Among authors: jen jc. Brain Pathol. 2014 Sep;24(5):510-8. doi: 10.1111/bpa.12178. Brain Pathol. 2014. PMID: 25323666 Free PMC article. Review.
Familial migraine with vertigo: no mutations found in CACNA1A.
Kim JS, Yue Q, Jen JC, Nelson SF, Baloh RW. Kim JS, et al. Among authors: jen jc. Am J Med Genet. 1998 Sep 1;79(2):148-51. doi: 10.1002/(sici)1096-8628(19980901)79:2<148::aid-ajmg11>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9741473
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. de Vries B, et al. Among authors: jen jc. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Arch Neurol. 2009. PMID: 19139306
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.
Ford AL, Chin VW, Fellah S, Binkley MM, Bodin AM, Balasetti V, Taiwo Y, Kang P, Lin D, Jen JC, Grand MG, Bogacki M, Liszewski MK, Hourcade D, Chen Y, Hassenstab J, Lee JM, An H, Miner JJ, Atkinson JP. Ford AL, et al. Among authors: jen jc. Neurology. 2020 Oct 6;95(14):e1918-e1931. doi: 10.1212/WNL.0000000000010659. Epub 2020 Sep 4. Neurology. 2020. PMID: 32887784 Free PMC article.
87 results