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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger,Causes Early-Onset Neurodegeneration |
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| Authors: | Maya M Polovitskaya Carlo Barbini Diego Martinelli Frederike L Harms F Sessions Cole Paolo Calligari Gianfranco Bocchinfuso Lorenzo Stella Andrea Ciolfi Marcello Niceta Teresa Rizza Marwan Shinawi Kathleen Sisco Jessika Johannsen Jonas Denecke Rosalba Carrozzo Daniel J Wegner Kerstin Kutsche Marco Tartaglia Thomas J Jentsch |
| Abstract: | |
| Keywords: | channelopathy anion/proton antiport chloride/proton exchange chloride channel neurogenic bladder vacuole fusion gain of function gating glutamate luminal pH copper metabolism |