| Title : Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 - |
| Author(s) : Laugwitz L , Redler S , Buchert R , Sturm M , Zeile I , Schara U , Wieczorek D , Haack T , Distelmaier F |
| Ref : Klin Padiatr , 230 :281 , 2018 |
| PubMedID: 29913539 |
| Gene_locus related to this paper: human-PREPL |
| 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 : Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations - Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| Author(s) : Schara U , Christen HJ , Durmus H , Hietala M , Krabetz K , Rodolico C , Schreiber G , Topaloglu H , Talim B , Voss W , Pihko H , Abicht A , Muller JS , Lochmuller H |
| Ref : Eur J Paediatr Neurol , 14 :326 , 2010 |
| Abstract : |
| PubMedSearch : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| PubMedID: 19900826 |
| Title : Therapeutic strategies in congenital myasthenic syndromes - Schara_2008_Neurotherapeutics_5_542 |
| Author(s) : Schara U , Lochmuller H |
| Ref : Neurotherapeutics , 5 :542 , 2008 |
| Abstract : |
| PubMedSearch : Schara_2008_Neurotherapeutics_5_542 |
| PubMedID: 19019305 |
| Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
| Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
| Ref : Brain , 131 :747 , 2008 |
| Abstract : |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
| PubMedID: 18180250 |