| 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 : |
| PubMedSearch : Bauche_2016_Am.J.Hum.Genet_99_753 |
| PubMedID: 27569547 |
| Title : Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome - Bauche_2013_Neuromuscul.Disord_23_998 |
| Author(s) : Bauche S , Boerio D , Davoine CS , Bernard V , Stum M , Bureau C , Fardeau M , Romero NB , Fontaine B , Koenig J , Hantai D , Gueguen A , Fournier E , Eymard B , Nicole S |
| Ref : Neuromuscular Disorders , 23 :998 , 2013 |
| Abstract : |
| PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998 |
| PubMedID: 24011702 |
| 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 : |
| PubMedSearch : Eymard_2013_Rev.Neurol.(Paris)_169 Suppl 1_S45 |
| PubMedID: 23452772 |
| Title : Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction - Hadj-Said_2012_Muscle.Nerve_45_567 |
| Author(s) : Hadj-Said W , Bangratz M , Vignaud A , Chatonnet A , Butler-Browne G , Nicole S , Agbulut O , Ferry A |
| Ref : Muscle & Nerve , 45 :567 , 2012 |
| Abstract : |
| PubMedSearch : Hadj-Said_2012_Muscle.Nerve_45_567 |
| PubMedID: 22431091 |
| Title : Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia - Stum_2008_Hum.Mol.Genet_17_3166 |
| Author(s) : Stum M , Girard E , Bangratz M , Bernard V , Herbin M , Vignaud A , Ferry A , Davoine CS , Echaniz-Laguna A , Rene F , Marcel C , Molgo J , Fontaine B , Krejci E , Nicole S |
| Ref : Hum Mol Genet , 17 :3166 , 2008 |
| Abstract : |
| PubMedSearch : Stum_2008_Hum.Mol.Genet_17_3166 |
| PubMedID: 18647752 |
| Title : Generation of a mouse model for Schwartz-Jampel syndrome - |
| Author(s) : Stum M , Girard E , Molgo J , Tabti N , Willer J-C , Fontaine B , Krejci E , Nicole S |
| Ref : Journal de Physiologie (Paris) , 99 :275 , 2006 |
| PubMedID: |
| Title : Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) - Donger_1998_Am.J.Hum.Genet_63_967 |
| Author(s) : Donger C , Krejci E , Serradell AP , Eymard B , Bon S , Nicole S , Chateau D , Gary F , Fardeau M , Massoulie J , Guicheney P |
| Ref : American Journal of Human Genetics , 63 :967 , 1998 |
| Abstract : |
| PubMedSearch : Donger_1998_Am.J.Hum.Genet_63_967 |
| PubMedID: 9758617 |