| Title : Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights - Yis_2017_J.Child.Neurol__883073817705252 |
| Author(s) : Yis U , Becker K , Kurul SH , Uyanik G , Bayram E , Haliloglu G , Polat AI , Ayanoglu M , Okur D , Tosun AF , Serdaroglu G , Yilmaz S , Topaloglu H , Anlar B , Cirak S , Engel AG |
| Ref : Journal of Child Neurology , :883073817705252 , 2017 |
| Abstract : |
| PubMedSearch : Yis_2017_J.Child.Neurol__883073817705252 |
| PubMedID: 28464723 |
| 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 : A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity - Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| Author(s) : Jimenez-Mallebrera C , Torelli S , Feng L , Kim J , Godfrey C , Clement E , Mein R , Abbs S , Brown SC , Campbell KP , Kroger S , Talim B , Topaloglu H , Quinlivan R , Roper H , Childs AM , Kinali M , Sewry CA , Muntoni F |
| Ref : Brain Pathology , 19 :596 , 2009 |
| Abstract : |
| PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedID: 18691338 |