NeuroscienceeLifePeer-reviewed
A novel, ataxic mouse model of Ataxia Telangiectasia caused by a clinically relevant nonsense mutation
H. Daniel Perez, May F. Abdallah, Jose I Chavira…·Paul J. Mathews
This paper describes a novel mouse model of Ataxia Telangiectasia with a nonsense mutation in Atm, showing ataxia, cerebellar defects, and potential therapeutic response to SMRT compounds.
28 citations