A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Titel:
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Auteur:
Gennarino, Vincenzo A. Palmer, Elizabeth E. McDonell, Laura M. Wang, Li Adamski, Carolyn J. Koire, Amanda See, Lauren Chen, Chun-An Schaaf, Christian P. Rosenfeld, Jill A. Panzer, Jessica A. Moog, Ute Hao, Shuang Bye, Ann Kirk, Edwin P. Stankiewicz, Pawel Breman, Amy M. McBride, Arran Kandula, Tejaswi Dubbs, Holly A. Macintosh, Rebecca Cardamone, Michael Zhu, Ying Ying, Kevin Dias, Kerith-Rae Cho, Megan T. Henderson, Lindsay B. Baskin, Berivan Morris, Paula Tao, Jiang Cowley, Mark J. Dinger, Marcel E. Roscioli, Tony Caluseriu, Oana Suchowersky, Oksana Sachdev, Rani K. Lichtarge, Olivier Tang, Jianrong Boycott, Kym M. Holder Jr., J. Lloyd Zoghbi, Huda Y.