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Schreiner F

References (2)

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

Title : Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives - Schreiner_2007_Neuromuscul.Disord_17_262
Author(s) : Schreiner F , Hoppenz M , Klaeren R , Reimann J , Woelfle J
Ref : Neuromuscular Disorders , 17 :262 , 2007
Abstract :
PubMedSearch : Schreiner_2007_Neuromuscul.Disord_17_262
PubMedID: 17300939