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Title : Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene - Muller_2004_Neuropediatrics_35_183 |
Author(s) : Muller JS , Petrova S , Kiefer R , Stucka R , Konig C , Baumeister SK , Huebner A , Lochmuller H , Abicht A |
Ref : Neuropediatrics , 35 :183 , 2004 |
Abstract : Muller_2004_Neuropediatrics_35_183 |
ESTHER : Muller_2004_Neuropediatrics_35_183 |
PubMedSearch : Muller_2004_Neuropediatrics_35_183 |
PubMedID: 15248101 |
Title : A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome - Abicht_2002_Brain_125_1005 |
Author(s) : Abicht A , Stucka R , Schmidt C , Briguet A , Hopfner S , Song IH , Pongratz D , Muller-Felber W , Ruegg MA , Lochmuller H |
Ref : Brain , 125 :1005 , 2002 |
Abstract : Abicht_2002_Brain_125_1005 |
ESTHER : Abicht_2002_Brain_125_1005 |
PubMedSearch : Abicht_2002_Brain_125_1005 |
PubMedID: 11960891 |