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Am J Hum Genet
A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration
- M.M. Polovitskaya
- C. Barbini
- D. Martinelli
- F.L. Harms
- F.S. Cole
- P. Calligari
- G. Bocchinfuso
- L. Stella
- A. Ciolfi
- M. Niceta
- T. Rizza
- M. Shinawi
- K. Sisco
- J. Johannsen
- J. Denecke
- R. Carrozzo
- D.J. Wegner
- K. Kutsche
- M. Tartaglia
- T.J. Jentsch