Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Henry Houlden, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Paola Goffrini, Luisa Chiapparini, Giovanna Zorzi, Manju A Kurian, Nardo Nardocci, Holger Prokisch, Susan Hayflick, Ivan Gout, Valeria Tiranti, Sebastiano Pasqualato, Sabrina Dusi, Lorella Valletta, Tobias B Haack, Yugo Tsuchiya, Paola Venco
American journal of human genetics 2014;94(1):11-22