Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
Titel:
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
Auteur:
Danhauser, Katharina Alhaddad, Bader Makowski, Christine Piekutowska-Abramczuk, Dorota Syrbe, Steffen Gomez-Ospina, Natalia Manning, Melanie A. Kostera-Pruszczyk, Anna Krahn-Peper, Claudia Berutti, Riccardo Kovács-Nagy, Reka Gusic, Mirjana Graf, Elisabeth Laugwitz, Lucia Röblitz, Michaela Wroblewski, Andreas Hartmann, Hans Das, Anibh M. Bültmann, Eva Fang, Fang Xu, Manting Schatz, Ulrich A. Karall, Daniela Zellner, Herta Haberlandt, Edda Feichtinger, René G. Mayr, Johannes A. Meitinger, Thomas Prokisch, Holger Strom, Tim M. Płoski, Rafał Hoffmann, Georg F. Pronicki, Maciej Bonnen, Penelope E. Morlot, Susanne Haack, Tobias B.