autosomal dominant retinal vasculopathy with cerebral leukodystrophy相关文献:
Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
PMID:
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
PMID:
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.
de Boer I, Pelzer N, Terwindt G.
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PMID:31536185
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.
Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
Wang X, Su L, Han J, Han Y, Yin Y, Huang J, Tang Y, Zhao Y, Qin Q.
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy.
Tsubata Y, Morita T, Morioka T, Sasagawa T, Ikarashi K, Saito N, Shimada H, Miyazaki S, Sakai S, Tanaka H, Saito R, Toyoshima Y, Nozaki H, Narita I.
CEN Case Rep. 2018 May;7(1):83-89. doi: 10.1007/s13730-017-0300-3. Epub 2018 Jan 10.
PMID:29322432
Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.
Chauvin SD, Holley JA, Poddar S, Miner CA, Kumble L, Fu J, Laue-Gizzi H, Hardy TA, Miner JJ.
J Clin Immunol. 2024 Dec 13;45(1):54. doi: 10.1007/s10875-024-01846-y.
PMID:39671052
Monogenic causes of stroke: now and the future.
Tan RY, Markus HS.
J Neurol. 2015 Dec;262(12):2601-16. doi: 10.1007/s00415-015-7794-4. Epub 2015 Jun 3.
PMID:26037017
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.