Publication
Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency
ECHS1Mutations, Dystonia, and PED
Simone Olgiati, Matej Skorvanek, Marialuisa Quadri, Michelle Minneboo, Josja Graafland, Guido J. Breedveld, Ramon Bonte, Zeliha Ozgur, Mirjam C.G.N. van den Hout, Kees Schoonderwoerd, Frans W. Verheijen, Wilfred F.J. van IJcken, Hsin Fen Chien, Egberto Reis Barbosa, Hsiu-Chen Chang, Szu-Chia Lai, Tu-Hsueh Yeh, Chin-Song Lu, Yah-Huei Wu-Chou, Anneke J.A. Kievit, Vladimir Han, Zuzana Gdovinova, Robert Jech, Robert M.W. Hofstra, George J.G. Ruijter, Wim Mandemakers, Vincenzo Bonifati
Movement Disorders, April 2016, Wiley
DOI: 10.1002/mds.26610