Zobrazeno 1 - 3
of 3
pro vyhledávání: '"genetics [Myelin Proteins]"'
Autor:
Gerard D. Schellenberg, Owen A. Ross, Rosa Rademakers, Matthew C. Baker, Laura B. Cantwell, Lawrence I. Golbe, Salvatore Spina, Beth A. Dombroski, Hyejin Yoon, Hakon Hakonarsen, Mi Ryung Han, Jorge L. Juncos, Bernardino Ghetti, Günter U. Höglinger, Daniel J. Serie, Alexandra I. Soto-Ortolaza, Marla Gearing, Curtis S. Younkin, John Q. Trojanowski, Zbigniew K. Wszolek, Jungsu Kim, Evan T. Geller, Bernie Devlin, Howard I. Hurtig, Sherry Beecher, Naomi Kouri, Rachel Goldmann Gross, Steven E. Arnold, Gregor K. Wenning, Keith A. Josephs, Nilufer Ertekin-Taner, Ulrich Müller, Bradley F. Boeve, Shinsuke Fujioka, Virginia M.-Y. Lee, Murray Grossman, Joseph E. Parisi, Steven G. Younkin, Ni Cole A. Finch, Jordan Grafman, Edward D. Huey, Charles L. White, Irene Litvan, Catriona McLean, Vivianna M. Van Deerlin, Neill R. Graff-Radford, Dennis W. Dickson, Julia E. Crook, Hans A. Kretzschmar, Sigrun Roeber, Jean Paul Vonsattel, Li-San Wang, Ryan J. Uitti, Martin R. Farlow
Publikováno v:
Nature Communications 6(1), 7247 (2015). doi:10.1038/ncomms8247
Nature communications
Nature Communications
Nature communications
Nature Communications
Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aadbb128b7beb72153fa78a88ad5607
https://pub.dzne.de/record/137993
https://pub.dzne.de/record/137993
Autor:
Schreiber, Stefanie, Oldag, Andreas, Tempelmann, Claus, Mawrin, Christian, Dengler, Reinhard, Schreiber, Frank, Goertler, Michael, Vielhaber, Stefan, Kornblum, Cornelia, Kollewe, Katja, Kropf, Siegfried, Schoenfeld, Ariel, Feistner, Helmut, Jakubiczka, Sibylle, Kunz, Wolfram S, Scherlach, Cordula
Publikováno v:
Muscle & nerve 47(3), 385-395 (2013). doi:10.1002/mus.23681
In this study we compare the ultrasound features in the median nerve in patients with different types of Charcot-Marie-Tooth (CMT) disease and hereditary neuropathies with liability to pressure palsies (HNPP) as a typical entrapment neuropathy.Median
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f7e00a5238d94c0e2d2b4cfd5d897fc0
https://pubmed.ncbi.nlm.nih.gov/23381770
https://pubmed.ncbi.nlm.nih.gov/23381770
Autor:
Nelis, E., Broeckhoven, C., Jonghe, P., Lofgren, A., Vandenberghe, A., Latour, P., Le Guern, E., Brice, A., Mostacciuolo, Ml, Schiavon, F., Francesc Palau, Bort, S., Upadhyaya, M., Rocchi, M., Archidiacono, N., Mandich, P., Bellone, E., Silander, K., Savontaus, Ml, Navon, R., Goldberg-Stern, H., Estivill, X., Volpini, V., Friedl, W., Gal, A.
Publikováno v:
European Journal of Human Genetics, 4, 25-33
European Journal of Human Genetics, 4, pp. 25-33
ResearcherID
European Journal of Human Genetics, 4, pp. 25-33
ResearcherID
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80561e3ddba758a2d7a4a68899b8ffc
http://hdl.handle.net/2066/188335
http://hdl.handle.net/2066/188335