Disease: Vasculopathy- retinal- with cerebral leukodystrophy
- A 44-year-old man with eye, kidney, and brain dysfunction
- A Case of TREX1-Associated Retinal Vasculopathy with Cerebral Leukodystrophy
- A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis
- A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain
- Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms
- Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
- Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease
- C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
- Coats plus in prematurity
- Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series
- DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice
- Estimation of national and subnational all-cause mortality indicators in Nepal, 2017
- Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy
- Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
- From migraine genes to mechanisms
- Genetic aspects of migraine
- Genetic determinants of juvenile stroke
- Genetic susceptibility to ischemic stroke
- Genetics of cerebral small vessel disease
- Genetics, TREX1 Mutations
- Genetics, TREX1 Mutations
- Hereditary cerebral small vessel disease and stroke
- Hereditary cerebral small vessel diseases: a review
- Hereditary cerebral small-vessel disease
- Human disease phenotypes associated with mutations in TREX1
- Immune Diseases Associated with TREX1 and STING Dysfunction
- Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
- Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy
- Measuring TREX1 and TREX2 exonuclease activities
- Migraine and genetic and acquired vasculopathies
- Migraine and neurogenetic disorders
- Migraine and small vessel diseases
- Migraine and stroke
- Monogenic causes of stroke: now and the future
- Neuropathology and genetics of cerebroretinal vasculopathies
- Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
- New roles for the major human 3'-5' exonuclease TREX1 in human disease
- Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome
- Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy
- Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6
- Progressive macular ischemia in retinal vasculopathy with cerebral leukodystrophy
- Properties of autonomous 3'-->5' exonucleases
- Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy
- Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
- Review: molecular genetics and pathology of hereditary small vessel diseases of the brain
- Structural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleases
- Tapetoretinal degeneration, deafness, myoclonus, dementia, epilepsy with the presence of excess alpha-amino-n-butyric acid. Contribution to the study of leptomeningeal angiomatosis with leukodystrophy sudanophil and abiotrophic complexes
- The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease
- TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy
- TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia
- TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation
- TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
- Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report