Associated Papers
One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy.
Mylonas G et al.
American Journal of Ophthalmology Case Reports, 2025
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.
McGlasson S et al.
Brain : a Journal of Neurology, 2025
Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.
Shekfeh M et al.
Human Genomics, 2025
Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.
Tato-Moreno P et al.
Frontiers in Immunology, 2025
Imbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Braune M et al.
Neurological Research and Practice, 2024
A Case of TREX1-Associated Retinal Vasculopathy with Cerebral Leukodystrophy.
Thomas AS et al.
Ophthalmology. Retina, 2020
[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report].
Komaki R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6.
Monroy-Jaramillo N et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2018
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement.
Carra-Dalliere C et al.
European Neurology, 2017
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
DiFrancesco JC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists.
Houghton OM et al.
Journal of Vitreoretinal Diseases, 0