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| Title : Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ - Barbeau_2023_Int.J.Mol.Sci_24_ |
| Author(s) : Barbeau S , Semprez F , Dobbertin A , Merriadec L , Roussange F , Eymard B , Sternberg D , Fournier E , Karasoy H , Martinat C , Legay C |
| Ref : Int J Mol Sci , 24 : , 2023 |
| Abstract : Barbeau_2023_Int.J.Mol.Sci_24_ |
| ESTHER : Barbeau_2023_Int.J.Mol.Sci_24_ |
| PubMedSearch : Barbeau_2023_Int.J.Mol.Sci_24_ |
| PubMedID: 38003406 |
| Title : Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families - Kediha_2023_Rev.Neurol.(Paris)__ |
| Author(s) : Kediha MI , Tazir M , Magnouche C , Sternberg D , Belarbi S , Eymard B , Ali Pacha L |
| Ref : Rev Neurol (Paris) , : , 2023 |
| Abstract : Kediha_2023_Rev.Neurol.(Paris)__ |
| ESTHER : Kediha_2023_Rev.Neurol.(Paris)__ |
| PubMedSearch : Kediha_2023_Rev.Neurol.(Paris)__ |
| PubMedID: 36764859 |
| Title : Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ - Barbeau_2020_Stem.Cell.Res_49_102106 |
| Author(s) : Barbeau S , Desprat R , Eymard B , Martinat C , Lemaitre JM , Legay C |
| Ref : Stem Cell Res , 49 :102106 , 2020 |
| Abstract : Barbeau_2020_Stem.Cell.Res_49_102106 |
| ESTHER : Barbeau_2020_Stem.Cell.Res_49_102106 |
| PubMedSearch : Barbeau_2020_Stem.Cell.Res_49_102106 |
| PubMedID: 33370874 |
| Title : Marathons and myasthenia gravis: a case report - Birnbaum_2018_BMC.Neurol_18_145 |
| Author(s) : Birnbaum S , Sharshar T , Eymard B , Theaudin M , Portero P , Hogrel JY |
| Ref : BMC Neurol , 18 :145 , 2018 |
| Abstract : Birnbaum_2018_BMC.Neurol_18_145 |
| ESTHER : Birnbaum_2018_BMC.Neurol_18_145 |
| PubMedSearch : Birnbaum_2018_BMC.Neurol_18_145 |
| PubMedID: 30227849 |
| 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 : Diagnostic and clinical classification of autoimmune myasthenia gravis - Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
| Author(s) : Berrih-Aknin S , Frenkian-Cuvelier M , Eymard B |
| Ref : J Autoimmun , 48-49 :143 , 2014 |
| Abstract : Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
| ESTHER : Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
| PubMedSearch : Berrih-Aknin_2014_J.Autoimmun_48-49_143 |
| PubMedID: 24530233 |
| Title : [Myasthenia, from the internist's point of view] - Eymard_2014_Rev.Med.Interne_35_421 |
| Author(s) : Eymard B |
| Ref : Rev Med Interne , 35 :421 , 2014 |
| Abstract : Eymard_2014_Rev.Med.Interne_35_421 |
| ESTHER : Eymard_2014_Rev.Med.Interne_35_421 |
| PubMedSearch : Eymard_2014_Rev.Med.Interne_35_421 |
| PubMedID: 24112993 |
| Title : Antibodies to clustered acetylcholine receptor: expanding the phenotype - Devic_2014_Eur.J.Neurol_21_130 |
| Author(s) : Devic P , Petiot P , Simonet T , Stojkovic T , Delmont E , Franques J , Magot A , Vial C , Lagrange E , Nicot AS , Risson V , Eymard B , Schaeffer L |
| Ref : Eur Journal of Neurology , 21 :130 , 2014 |
| Abstract : Devic_2014_Eur.J.Neurol_21_130 |
| ESTHER : Devic_2014_Eur.J.Neurol_21_130 |
| PubMedSearch : Devic_2014_Eur.J.Neurol_21_130 |
| PubMedID: 24112557 |
| 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 |
| 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 : Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nAChR e-subunit - |
| Author(s) : Yu H , Ishigaki K , Shimahara T , Bournaud R , Poupon CL , de Carvalho LP , Corringer PJ , Koenig J , Eymard B , Hantai D |
| Ref : Journal de Physiologie (Paris) , 99 :2 , 2006 |
| PubMedID: |
| 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: |
| Title : The origin of tubular aggregates in human myopathies - Chevessier_2005_J.Pathol_207_313 |
| Author(s) : Chevessier F , Bauche-Godard S , Leroy JP , Koenig J , Paturneau-Jouas M , Eymard B , Hantai D , Verdiere-Sahuque M |
| Ref : Journal of Pathology , 207 :313 , 2005 |
| Abstract : Chevessier_2005_J.Pathol_207_313 |
| ESTHER : Chevessier_2005_J.Pathol_207_313 |
| PubMedSearch : Chevessier_2005_J.Pathol_207_313 |
| PubMedID: 16178054 |
| Title : Congenital myasthenic syndromes - Hantai_2004_Curr.Opin.Neurol_17_539 |
| Author(s) : Hantai D , Richard P , Koenig J , Eymard B |
| Ref : Curr Opin Neurol , 17 :539 , 2004 |
| Abstract : Hantai_2004_Curr.Opin.Neurol_17_539 |
| ESTHER : Hantai_2004_Curr.Opin.Neurol_17_539 |
| PubMedSearch : Hantai_2004_Curr.Opin.Neurol_17_539 |
| PubMedID: 15367858 |
| Title : [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation] - Andreux_2004_Rev.Neurol.(Paris)_160_163 |
| Author(s) : Andreux F , Hantai D , Eymard B |
| Ref : Rev Neurol (Paris) , 160 :163 , 2004 |
| Abstract : Andreux_2004_Rev.Neurol.(Paris)_160_163 |
| ESTHER : Andreux_2004_Rev.Neurol.(Paris)_160_163 |
| PubMedSearch : Andreux_2004_Rev.Neurol.(Paris)_160_163 |
| PubMedID: 15034473 |
| 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 : Donger_1998_Am.J.Hum.Genet_63_967 |
| ESTHER : Donger_1998_Am.J.Hum.Genet_63_967 |
| PubMedSearch : Donger_1998_Am.J.Hum.Genet_63_967 |
| PubMedID: 9758617 |
| Title : Accumulation of acetylcholine receptors is a necessary condition for normal accumulation of acetylcholinesterase during in vitro neuromuscular synaptogenesis - De La Porte_1998_Eur.J.Neurosci_10_1631 |
| Author(s) : De La Porte S , Chaubourt E , Fabre F , Poulas K , Chapron J , Eymard B , Tzartos S , Koenig J |
| Ref : European Journal of Neuroscience , 10 :1631 , 1998 |
| Abstract : De La Porte_1998_Eur.J.Neurosci_10_1631 |
| ESTHER : De La Porte_1998_Eur.J.Neurosci_10_1631 |
| PubMedSearch : De La Porte_1998_Eur.J.Neurosci_10_1631 |
| PubMedID: 9751136 |
| Title : Effect of sera from myasthenia gravis patients and of alpha-bungarotoxin on acetylcholinesterase during in vitro neuromuscular synaptogenesis - De la Porte_1993_J.Neurol.Sci_117_92 |
| Author(s) : De La Porte S , Ragueh F , Eymard B , Courbin P , Chapron J , Koenig J |
| Ref : Journal of the Neurological Sciences , 117 :92 , 1993 |
| Abstract : De la Porte_1993_J.Neurol.Sci_117_92 |
| ESTHER : De la Porte_1993_J.Neurol.Sci_117_92 |
| PubMedSearch : De la Porte_1993_J.Neurol.Sci_117_92 |
| PubMedID: 8410074 |
| Title : Neonatal myasthenia gravis: antigenic specificities of antibodies in sera from mothers and their infants - Tzartos_1990_Clin.Exp.Immunol_80_376 |
| Author(s) : Tzartos SJ , Efthimiadis A , Morel E , Eymard B , Bach JF |
| Ref : Clinical & Experimental Immunology , 80 :376 , 1990 |
| Abstract : Tzartos_1990_Clin.Exp.Immunol_80_376 |
| ESTHER : Tzartos_1990_Clin.Exp.Immunol_80_376 |
| PubMedSearch : Tzartos_1990_Clin.Exp.Immunol_80_376 |
| PubMedID: 1695559 |