A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
Titel:
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
Auteur:
Polovitskaya, Maya M. Barbini, Carlo Martinelli, Diego Harms, Frederike L. Cole, F. Sessions Calligari, Paolo Bocchinfuso, Gianfranco Stella, Lorenzo Ciolfi, Andrea Niceta, Marcello Rizza, Teresa Shinawi, Marwan Sisco, Kathleen Johannsen, Jessika Denecke, Jonas Carrozzo, Rosalba Wegner, Daniel J. Kutsche, Kerstin Tartaglia, Marco Jentsch, Thomas J.