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| 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 : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| ESTHER : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| PubMedSearch : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| PubMedID: 19900826 |
| Title : Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene - Isoniemi_1995_Hum.Mutat_5_318 |
| Author(s) : Isoniemi A , Hietala M , Aula P , Jalanko A , Peltonen L |
| Ref : Hum Mutat , 5 :318 , 1995 |
| Abstract : Isoniemi_1995_Hum.Mutat_5_318 |
| ESTHER : Isoniemi_1995_Hum.Mutat_5_318 |
| PubMedSearch : Isoniemi_1995_Hum.Mutat_5_318 |
| PubMedID: 7627186 |