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| Title : Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea - Bauche_2016_Am.J.Hum.Genet_99_753 |
| Author(s) : Bauche S , O'Regan S , Azuma Y , Laffargue F , McMacken G , Sternberg D , Brochier G , Buon C , Bouzidi N , Topf A , Lacene E , Remerand G , Beaufrere AM , Pebrel-Richard C , Thevenon J , El Chehadeh-Djebbar S , Faivre L , Duffourd Y , Ricci F , Mongini T , Fiorillo C , Astrea G , Burloiu CM , Butoianu N , Sandu C , Servais L , Bonne G , Nelson I , Desguerre I , Nougues MC , Boeuf B , Romero N , Laporte J , Boland A , Lechner D , Deleuze JF , Fontaine B , Strochlic L , Lochmuller H , Eymard B , Mayer M , Nicole S |
| Ref : American Journal of Human Genetics , 99 :753 , 2016 |
| Abstract : Bauche_2016_Am.J.Hum.Genet_99_753 |
| ESTHER : Bauche_2016_Am.J.Hum.Genet_99_753 |
| PubMedSearch : Bauche_2016_Am.J.Hum.Genet_99_753 |
| PubMedID: 27569547 |
| Title : [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy - The French national Congenital Myasthenic Syndrome network experience] - Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
| Author(s) : Eymard B , Stojkovic T , Sternberg D , Richard P , Nicole S , Fournier E , Behin A , Laforet P , Servais L , Romero N , Fardeau M , Hantai D |
| Ref : Rev Neurol (Paris) , 169 Suppl 1 :S45 , 2013 |
| Abstract : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
| ESTHER : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
| PubMedSearch : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
| PubMedID: 23452772 |