Jimenez-Mallebrera C

References (2)

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 :
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 :
PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596
PubMedID: 18691338