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by Ross, Owen A, Dr and Soto-Ortolaza, Alexandra I, BSc and Heckman, Michael G, MS and Aasly, Jan O, Prof and Abahuni, Nadine, MD and Annesi, Grazia, Prof and Bacon, Justin A, BSc and Bardien, Soraya, PhD and Bozi, Maria, MD and Brice, Alexis, Prof and Brighina, Laura, MD and Van Broeckhoven, Christine, Prof and Carr, Jonathan, Prof and Chartier-Harlin, Marie-Christine, Prof and Dardiotis, Efthimios, MD and Dickson, Dennis W, Prof and Diehl, Nancy N, BS and Elbaz, Alexis, Prof and Ferrarese, Carlo, Prof and Ferraris, Alessandro, MD and Fiske, Brian, PhD and Gibson, J Mark, Prof and Gibson, Rachel, PhD and Hadjigeorgiou, Georgios M, MD and Hattori, Nobutaka, Prof and Ioannidis, John PA, Prof and Jasinska-Myga, Barbara, MD and Jeon, Beom S, Prof and Kim, Yun Joong, Prof and Klein, Christine, Prof and Kruger, Rejko, MD and Kyratzi, Elli, MD and Lesage, Suzanne, PhD and Lin, Chin-Hsien, MD and Lynch, Timothy, Prof and Maraganore, Demetrius M, Prof and Mellick, George D, PhD and Mutez, Eugénie, MD and Nilsson, Christer, Prof and Opala, Grzegorz, Prof and Park, Sung Sup, Prof and Puschmann, Andreas, MD and Quattrone, Aldo, Prof and Sharma, Manu, PhD and Silburn, Peter A, Prof and Sohn, Young Ho, Prof and Stefanis, Leonidas, MD and Tadic, Vera, MD and Theuns, Jessie, PhD and Tomiyama, Hiroyuki, MD and Uitti, Ryan J, Prof and Valente, Enza Maria, Prof and van de Loo, Simone, PhD and Vassilatis, Demetrios K, PhD and Vilariño-Güell, Carles, PhD and White, Linda R, Prof and Wirdefeldt, Karin, MD and Wszolek, Zbigniew K, Prof and Wu, Ruey-Meei, Prof and Farrer, Matthew J, Prof and Genetic Epidemiology Parkinson's D and Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium and Sektion IV and Lund University and Psychiatry (Lund) and Klinisk neurogenetik and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Psykiatri, Lund and Division IV and Clinical Neurogenetics and Lunds universitet
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 10, pp. 898 - 908
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Journal of Neurology, ISSN 0340-5354, 12/2018, Volume 265, Issue 12, pp. 2934 - 2943
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Epilepsia, ISSN 0013-9580, 09/2017, Volume 58, Issue 9, pp. 1518 - 1523
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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
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Annals of Neurology, ISSN 0364-5134, 05/2011, Volume 69, Issue 5, pp. 778 - 792
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Lancet Neurology, ISSN 1474-4422, 2006, Volume 5, Issue 11, pp. 917 - 923
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Autophagy, ISSN 1554-8627, 08/2017, Volume 13, Issue 8, pp. 1280 - 1303
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Neurobiology of Aging, ISSN 0197-4580, 2009, Volume 32, Issue 3, pp. 548.e9 - 548.e18
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