Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| 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 : Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings - Gomez-Garcia_2022_Front.Neurol_13_909715 |
| Author(s) : Gomez-Garcia de la Banda M , Simental-Aldaba E , Fahmy N , Sternberg D , Blondy P , Quijano-Roy S , Malfatti E |
| Ref : Front Neurol , 13 :909715 , 2022 |
| Abstract : Gomez-Garcia_2022_Front.Neurol_13_909715 |
| ESTHER : Gomez-Garcia_2022_Front.Neurol_13_909715 |
| PubMedSearch : Gomez-Garcia_2022_Front.Neurol_13_909715 |
| PubMedID: 35720108 |
| 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 |
| 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 : Relief from episodic weakness with pyridostigmine in paramyotonia congenita: a family study - Khadilkar_2010_Muscle.Nerve_41_133 |
| Author(s) : Khadilkar SV , Singh RK , Mansukhani KA , Urtizberea JA , Sternberg D |
| Ref : Muscle & Nerve , 41 :133 , 2010 |
| Abstract : Khadilkar_2010_Muscle.Nerve_41_133 |
| ESTHER : Khadilkar_2010_Muscle.Nerve_41_133 |
| PubMedSearch : Khadilkar_2010_Muscle.Nerve_41_133 |
| PubMedID: 19768756 |