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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

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Title: A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Authors: 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, Conceição, 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.
Source: In The American Journal of Human Genetics 4 June 2015 96(6):938-947
Database: ScienceDirect
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  Data: In <searchLink fieldCode="JN" term="%22The+American+Journal+of+Human+Genetics%22">The American Journal of Human Genetics</searchLink> 4 June 2015 96(6):938-947
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