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Τρίτη 7 Νοεμβρίου 2017

A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia

Mencacci, NE; Rubio-Augusti, I; Zdebik, A; Asmus, F; Ludtmann, M; Hauser, AK; Plagnol, V; ... Wood, NW; + view all Mencacci, NE; Rubio-Augusti, I; Zdebik, A; Asmus, F; Ludtmann, M; Hauser, AK; Plagnol, V; Pittman, A; Bandres-Ciga, S; Soutar, M; Peall, K; Morris, H; Trabzuni, D; Ryten, M; Tekman, M; Stanescu, H; Kleta, R; Carecchio, M; Nardocci, N; Garavaglia, B; Lohmann, E; Weissbach, A; Klein, C; Hardy, J; Abramov, AY; Foltynie, T; Gasser, T; Bhatia, KP; Wood, NW; - view fewer (2015) A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia. In: (Proceedings) 19th International Congress of Parkinson's Disease and Movement Disorders. (pp. S457-S458). WILEY-BLACKWELL

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