A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

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.

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Autor(en):

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

Erschienen in:

American Journal of Human Genetics (2015), Bd. 96, H. 6, S. 938-947

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2015.04.008

ISSN:

0002-9297