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المؤلفون: Daniel P. Joseph, Paulus T. V. M. de Jong, Todd A. Hardy, John P. Atkinson, Rula A. Hajj-Ali, Martin Dichgans, Parul H. Kothari, Aisha Shaikh, Elizabeth M. Brunt, M. Gilbert Grand, Suzanne Hodgkinson, Arn M. J. M. van den Maagdenberg, Michael Hayes, Grant R. Kolar, Marc D. de Smet, Andreas Gschwendter, Ingeborg M. Bajema, Gisela M. Terwindt, Rune R. Frants, Greet Dijkman, Mark C. Kruit, Anine H. Stam, Didi De Wolff-Rouendaal, Mark A. van Buchem, Joanna C. Jen, Michel D. Ferrari, Sjoerd G. van Duinen, Robert W. Baloh, Katya E. Kotschet, Joost Haan, Robert E. Schmidt, David R. Fintak, Nadine Pelzer, Peter A. Kempster, Helen Liapis, Marion L.C. Maat-Schieman, Jo Anne Lacey
المساهمون: Netherlands Institute for Neuroscience (NIN), Ophthalmology, ANS - Cellular & Molecular Mechanisms
المصدر: Brain: a journal of neurology, 139, 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Pressمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, small vessel disease, CADASIL, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, migraine, Retinal Vasculitis, neuro-ophthalmology, neuropathology, business.industry, Leukodystrophy, Middle Aged, medicine.disease, Penetrance, Hyperintensity, 3. Good health, Hereditary vascular retinopathy, 030104 developmental biology, molecular genetics, Female, Neurology (clinical), Cerebroretinal vasculopathy, business, 030217 neurology & neurosurgery, Retinopathy
وصف الملف: application/pdf
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المؤلفون: Todd A. Hardy, Anna Richards, M. Kathryn Liszewski, Martin B. Delatycki, Martin Dichgans, Boukje de Vries, Arn M. J. M. van den Maagdenberg, J. A. Oosterhuis, Joost Haan, Mark Gilbert Grand, Hafsa Mamsa, Andreas Gschwendter, Mary J. van Schooneveld, Gisela M. Terwindt, Ruth Schäfer, Michael J. Kane, Kaate R J Vanmolkot, Paulus T. V. M. de Jong, John P. Atkinson, Suzanne Hodgkinson, Dirk Spitzer, Stanley F. Nelson, Anine H. Stam, Maria Louise Barilla-Labarca, Katya E. Kotschet, Rune R. Frants, Paula Bertram, Yumi Kasai, Michel D. Ferrari, Parul H. Kothari, Robert W. Baloh, David J. Kavanagh, Joanna C. Jen, Jijun Wan, Caroline W. Storimans, Michael D. McLellan, Rula A. Hajj-Ali
المساهمون: ANS - Amsterdam Neuroscience, Ophthalmology, Other departments
المصدر: Nature Genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Groupمصطلحات موضوعية: Exonuclease, Cytoplasm, NEPHROPATHY, Recombinant Fusion Proteins, Molecular Sequence Data, VASCULAR RETINOPATHY, DNA Exonuclease, HEREDITARY ENDOTHELIOPATHY, Transfection, Cell Line, Frameshift mutation, Degenerative disease, Retinal Diseases, AICARDI-GOUTIERES-SYNDROME, Autosomal dominant retinal vasculopathy with cerebral leukodystrophy, LOCUS, Genetics, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Genes, Dominant, Cell Nucleus, Brain Diseases, Microscopy, Confocal, Sequence Homology, Amino Acid, biology, Leukodystrophy, Phosphoproteins, medicine.disease, Molecular biology, Luminescent Proteins, Exodeoxyribonucleases, Mutation, biology.protein, Aicardi–Goutières syndrome, CEREBRORETINAL VASCULOPATHY, Cerebroretinal vasculopathy
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المصدر: Clinical and Experimental Ophthalmology. 33:181-183
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Genetic Linkage, Locus (genetics), Nephropathy, Leukoencephalopathy, Retinal Diseases, Genetic linkage, medicine, Humans, Fluorescein Angiography, Index case, business.industry, Retinal Vessels, Syndrome, medicine.disease, Pedigree, Hereditary vascular retinopathy, Stroke, Ophthalmology, Female, Kidney Diseases, Chromosomes, Human, Pair 3, Endothelium, Vascular, business, Cerebroretinal vasculopathy, Retinopathy