A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Author: Mencacci, Niccolo E.; Rubio-Agusti, Ignacio; Zdebik, Anselm; Asmus, Friedrich; Ludtmann, Marthe H. R.; Ryten, Mina; Plagnol, Vincent; Hauser, Ann-Kathrin; Bandres-Ciga, Sara; Bettencourt, Conceicao; Forabosco, Paola; Hughes, Deborah; Soutar, Marc M. P.; Peall, Kathryn; Morris, Huw R.; Trabzuni, Daniah; Tekman, Mehmet; Stanescu, Horia C.; Kleta, Robert; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Garavaglia, Barbara; Lohmann, Ebba; Weissbach, Anne; Klein, Christine; Hardy, John; Pittman, Alan M.; Foltynie, Thomas; Abramov, Andrey Y.; Gasser, Thomas; Bhatia, Kailash P.; Wood, Nicholas W.
Tübinger Autor(en):
Asmus, Friedrich
Hauser, Ann-Kathrin
Lohmann, Ebba
Gasser, Thomas
Published in: American Journal of Human Genetics (2015), Bd. 96, H. 6, S. 938-947
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2015.04.008
ISSN: 0002-9297
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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