Crosby AH

Title : Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization - Wang_2017_Brain_140_2838

Author(s) : Wang H , Salter CG , Refai O , Hardy H , Barwick KES , Akpulat U , Kvarnung M , Chioza BA , Harlalka G , Taylan F , Sejersen T , Wright J , Zimmerman HH , Karakaya M , Stuve B , Weis J , Schara U , Russell MA , Abdul-Rahman OA , Chilton J , Blakely RD , Baple EL , Cirak S , Crosby AH

Ref : Brain , 140 :2838 , 2017

Abstract :

PubMedSearch : Wang_2017_Brain_140_2838

PubMedID: 29088354

Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147

Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH

Ref : American Journal of Human Genetics , 73 :1147 , 2003

Abstract :

PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147

PubMedID: 14564668

Gene_locus related to this paper: human-SPG21

Crosby AH

References (2)

1. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization - Wang_2017_Brain_140_2838

2. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147