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| Title : KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors - Natera-de Benito_2016_J.Neurol_263_517 |
| Author(s) : Natera-de Benito D , Nascimento A , Abicht A , Ortez C , Jou C , Muller JS , Evangelista T , Topf A , Thompson R , Jimenez-Mallebrera C , Colomer J , Lochmuller H |
| Ref : Journal of Neurology , 263 :517 , 2016 |
| Abstract : Natera-de Benito_2016_J.Neurol_263_517 |
| ESTHER : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| 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 : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| ESTHER : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedID: 18691338 |