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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Brain 140: 2838

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (2003)
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
American Journal of Human Genetics 73: 1147