Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Andreas Gschwendter"'
Autor:
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
Publikováno v:
Brain: a journal of neurology, 139, 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad6047e335fee2baa8f8a376acd1a67
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608
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.