| 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 : 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 : 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 : Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies - Robb_2011_Neuromuscul.Disord_21_379 |
| Author(s) : Robb SA , Sewry CA , Dowling JJ , Feng L , Cullup T , Lillis S , Abbs S , Lees MM , Laporte J , Manzur AY , Knight RK , Mills KR , Pike MG , Kress W , Beeson D , Jungbluth H , Pitt MC , Muntoni F |
| Ref : Neuromuscular Disorders , 21 :379 , 2011 |
| Abstract : |
| PubMedSearch : Robb_2011_Neuromuscul.Disord_21_379 |
| PubMedID: 21440438 |
| Title : Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies - Robb_2011_Neuromuscul.Disord_21_379 |
| Author(s) : Robb SA , Sewry CA , Dowling JJ , Feng L , Cullup T , Lillis S , Abbs S , Lees MM , Laporte J , Manzur AY , Knight RK , Mills KR , Pike MG , Kress W , Beeson D , Jungbluth H , Pitt MC , Muntoni F |
| Ref : Neuromuscular Disorders , 21 :379 , 2011 |
| Abstract : |
| PubMedSearch : Robb_2011_Neuromuscul.Disord_21_379 |
| PubMedID: 21440438 |
| Title : Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies - Robb_2011_Neuromuscul.Disord_21_379 |
| Author(s) : Robb SA , Sewry CA , Dowling JJ , Feng L , Cullup T , Lillis S , Abbs S , Lees MM , Laporte J , Manzur AY , Knight RK , Mills KR , Pike MG , Kress W , Beeson D , Jungbluth H , Pitt MC , Muntoni F |
| Ref : Neuromuscular Disorders , 21 :379 , 2011 |
| Abstract : |
| PubMedSearch : Robb_2011_Neuromuscul.Disord_21_379 |
| PubMedID: 21440438 |