Zobrazeno 1 - 5
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pro vyhledávání: '"Autosomal dominant retinal vasculopathy with cerebral leukodystrophy"'
Autor:
Jay Chol Choi
Publikováno v:
Journal of Stroke
Journal of Stroke, Vol 17, Iss 1, Pp 7-16 (2015)
Journal of Stroke, Vol 17, Iss 1, Pp 7-16 (2015)
Cerebral small vessel disease (SVD) is an important cause of stroke and cognitive impairment among the elderly and is a more frequent cause of stroke in Asia than in the US or Europe. Although traditional risk factors such as hypertension or diabetes
Autor:
Jay Chol Choi
Publikováno v:
Stroke Revisited: Diagnosis and Treatment of Ischemic Stroke ISBN: 9789811014239
Monogenic disorders in which ischemic stroke is the main clinical feature are rare, but the number of reported cases is increasing as the clinical features become widely known and diagnostic examinations are more readily available. The exact diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a4c4888aad5a25883dfcc50a9234570
https://doi.org/10.1007/978-981-10-1424-6_22
https://doi.org/10.1007/978-981-10-1424-6_22
Autor:
Chiara Di Palma, Maria Teresa Dotti, Ilaria Taglia, Silvia Bianchi, Antonio Federico, Ilaria Di Donato
Publikováno v:
Journal of the Neurological Sciences. 322:25-30
Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic strok
Autor:
Aaron M. Gruver, E. Rene Rodriguez, Lynn Schoenfield, Rula Hajj-Ali, Carmela D. Tan, Joshua F. Coleman
Publikováno v:
Journal of Neuro-Ophthalmology. 31:20-24
Autosomal dominant retinocerebral vasculopathy with cerebral leukodystrophy (RVCL) is a rare neurovascular syndrome causing retinal and central nervous system vasculopathy often recognized as contrast-enhancing white matter changes or pseudotumors on
Autor:
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
Publikováno v:
Nature Genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Group
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle- age onset. In nine families, we identified heterozygous C- terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease.