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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 : 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 : Bauche_2013_Neuromuscul.Disord_23_998 |
| ESTHER : Bauche_2013_Neuromuscul.Disord_23_998 |
| PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998 |
| PubMedID: 24011702 |
| Title : Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations - Wargon_2012_Neuromuscul.Disord_22_318 |
| Author(s) : Wargon I , Richard P , Kuntzer T , Sternberg D , Nafissi S , Gaudon K , Lebail A , Bauche S , Hantai D , Fournier E , Eymard B , Stojkovic T |
| Ref : Neuromuscular Disorders , 22 :318 , 2012 |
| Abstract : Wargon_2012_Neuromuscul.Disord_22_318 |
| ESTHER : Wargon_2012_Neuromuscul.Disord_22_318 |
| PubMedSearch : Wargon_2012_Neuromuscul.Disord_22_318 |
| PubMedID: 22088788 |
| Title : Identification of an agrin mutation that causes congenital myasthenia and affects synapse function - Huze_2009_Am.J.Hum.Genet_85_155 |
| Author(s) : Huze C , Bauche S , Richard P , Chevessier F , Goillot E , Gaudon K , Ben Ammar A , Chaboud A , Grosjean I , Lecuyer HA , Bernard V , Rouche A , Alexandri N , Kuntzer T , Fardeau M , Fournier E , Brancaccio A , Ruegg MA , Koenig J , Eymard B , Schaeffer L , Hantai D |
| Ref : American Journal of Human Genetics , 85 :155 , 2009 |
| Abstract : Huze_2009_Am.J.Hum.Genet_85_155 |
| ESTHER : Huze_2009_Am.J.Hum.Genet_85_155 |
| PubMedSearch : Huze_2009_Am.J.Hum.Genet_85_155 |
| PubMedID: 19631309 |
| Title : The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa - Richard_2008_Neurology_71_1967 |
| Author(s) : Richard P , Gaudon K , Haddad H , Ammar AB , Genin E , Bauche S , Paturneau-Jouas M , Muller JS , Lochmuller H , Grid D , Hamri A , Nouioua S , Tazir M , Mayer M , Desnuelle C , Barois A , Chabrol B , Pouget J , Koenig J , Gouider-Khouja N , Hentati F , Eymard B , Hantai D |
| Ref : Neurology , 71 :1967 , 2008 |
| Abstract : Richard_2008_Neurology_71_1967 |
| ESTHER : Richard_2008_Neurology_71_1967 |
| PubMedSearch : Richard_2008_Neurology_71_1967 |
| PubMedID: 19064877 |
| Title : Mutations in MUSK cause congenital myasthenic syndrome - |
| Author(s) : Chevessier F , Faraut B , Ravel-Chapuis A , Richard P , Gaudon K , Bauche S , Prioleau C , Herbst R , Goillot E , Ioos C , Azulay J-P , Attarian S , Leroy J-P , Fournier E , Legay C , Schaeffer L , Koenig J , Fardeau M , Eymard B , Pouget J , Hantai D |
| Ref : Journal de Physiologie (Paris) , 99 :256 , 2006 |
| PubMedID: |