Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Soutar, Marc M P"'
Autor:
Mencacci, Niccolo E, Rubio-Agusti, Ignacio, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M P, Peall, Kathryn, Morris, Huw R, Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Carecchio, Miryam, Zdebik, Anselm, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M, Foltynie, Thomas, Abramov, Andrey Y, Asmus, Friedrich, Gasser, Thomas, Bhatia, Kailash P, Wood, Nicholas W, Ludtmann, Marthe H R, Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The American journal of human genetics 96(6), 938-947 (2015). doi:10.1016/j.ajhg.2015.04.008
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The American journal of human genetics 96(6), 938-947 (2015). doi:10.1016/j.ajhg.2015.04.008
Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%-50% of cases. After excluding SGCE mu