Functional Validation of Abhd12 Mutations in the Neurodegenerative Disease Pharc

Angele Tingaud-Sequeira,Demetrio Raldua,Julie Lavie,Guilaine Mathieu, Magali Bordier,Anja Knoll-Gellida, Pierre Rambeau,Isabelle Coupry,Michele Andre,Eva Malm,Claes Moller,Sten Andreasson,Nanna D. Rendtorff,Lisbeth Tranebjaerg,Michel Koenig,Didier Lacombe,Cyril Goizet,Patrick J. Babin

NEUROBIOLOGY OF DISEASE（2017）

Cited 28|Views62
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Key words
Neurodegenerative disease,PHARC,ABHD12,Mutations,Cell and zebrafish models,Demyelinating polyneuropathy,Hearing loss, ataxia, retinitis pigmentosa
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