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| 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 : Wang_2017_Brain_140_2838 |
| ESTHER : Wang_2017_Brain_140_2838 |
| 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 : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| ESTHER : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| PubMedID: 14564668 |
| Gene_locus related to this paper: human-SPG21 |