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Nature genetics, ISSN 1061-4036, 2007, Volume 39, Issue 9, pp. 1068 - 1070
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue 11, pp. 2909 - 2922
Journal Article
Neurological Sciences, ISSN 1590-1874, 2/2015, Volume 36, Issue 2, pp. 323 - 330
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset disorder caused by C-terminal heterozygous frameshift (fs) mutations in the human... 
Neurology | Cerebral calcifications | Medicine & Public Health | Retinal vasculopathy with cerebral leukodystrophy | Systemic microangiopathy | TREX1 | Brain pseudotumoral lesion | Hereditary systemic angiopathy | Neurosurgery | Psychiatry | Neuroradiology | TUMOR | CEREBRORETINAL VASCULOPATHY | NEPHROPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | STROKE | HEREDITARY SYNDROME | AICARDI-GOUTIERES-SYNDROME | LUPUS | VESSEL DISEASES | DNA EXONUCLEASE TREX1 | RETINOPATHY | Retinal Diseases - genetics | Frameshift Mutation | Vascular Diseases - pathology | Follow-Up Studies | Humans | Male | Retinal Diseases - metabolism | Tomography, X-Ray Computed | Phosphoproteins - metabolism | Cell Nucleus - metabolism | Cell Nucleus - pathology | DNA Mutational Analysis | Retinal Diseases - pathology | Adult | Exodeoxyribonucleases - genetics | Cytosol - pathology | Vascular Diseases - drug therapy | Fibroblasts - metabolism | Hereditary Central Nervous System Demyelinating Diseases - genetics | Cell Line | Vascular Diseases - genetics | Phosphoproteins - genetics | Fibroblasts - pathology | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Magnetic Resonance Imaging | Microscopy, Confocal | Hereditary Central Nervous System Demyelinating Diseases - pathology | Exodeoxyribonucleases - metabolism | Cytosol - metabolism | Retinal Diseases - drug therapy | Vascular Diseases - metabolism | Hereditary Central Nervous System Demyelinating Diseases - drug therapy | Genetic aspects | Analysis | Genetic screening | Resveratrol
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2016, Volume 79, Issue 4, pp. 507 - 519
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX1 (3‐prime repair exonuclease‐1).... 
WEGENERS-GRANULOMATOSIS | EALES-DISEASE | ANTIMALARIAL-DRUGS | TREX1 | NEUROLOGICAL INVOLVEMENT | BEHCETS-DISEASE | CEREBRORETINAL VASCULOPATHY | RETINAL VASCULOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | HEREDITARY ENDOTHELIOPATHY | CEREBRAL LEUKODYSTROPHY | retinal vasculopathy with cerebral leukodystrophy | cerebral calcifications | nephropathy
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