| Title : Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man - Gadaleta_2024_Acta.Myol_43_116 |
| Author(s) : Gadaleta G , Urbano G , Rolle E , Topf A , Vercelli L |
| Ref : Acta Myol , 43 :116 , 2024 |
| Abstract : |
| PubMedSearch : Gadaleta_2024_Acta.Myol_43_116 |
| PubMedID: 39468969 |
| Title : Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort - Polavarapu_2023_Brain__ |
| Author(s) : Polavarapu K , Sunitha B , Topf A , Preethish-Kumar V , Thompson R , Vengalil S , Nashi S , Bardhan M , Sanka SB , Huddar A , Unnikrishnan G , Arunachal G , Girija MS , Porter A , Azuma Y , Lorenzoni PJ , Baskar D , Anjanappa RM , Keertipriya M , Padmanabh H , Harikrishna GV , Laurie S , Matalonga L , Horvath R , Nalini A , Lochmuller H |
| Ref : Brain , : , 2023 |
| Abstract : |
| PubMedSearch : Polavarapu_2023_Brain__ |
| PubMedID: 37721175 |
| Title : Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene - Bonanno_2020_Neuromuscul.Disord__ |
| Author(s) : Bonanno C , Rodolico C , Topf A , Foti FM , Liu WW , Beeson D , Toscano A , Lochmuller H |
| Ref : Neuromuscular Disorders , : , 2020 |
| Abstract : |
| PubMedSearch : Bonanno_2020_Neuromuscul.Disord__ |
| PubMedID: 32360402 |
| Title : Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness - Owen_2018_Am.J.Med.Genet.A_176_1594 |
| Author(s) : Owen D , Topf A , Preethish-Kumar V , Lorenzoni PJ , Vroling B , Scola RH , Dias-Tosta E , Geraldo A , Polavarapu K , Nashi S , Cox D , Evangelista T , Dawson J , Thompson R , Senderek J , Laurie S , Beltran S , Gut M , Gut I , Nalini A , Lochmuller H |
| Ref : American Journal of Medicine Genet A , 176 :1594 , 2018 |
| Abstract : |
| PubMedSearch : Owen_2018_Am.J.Med.Genet.A_176_1594 |
| PubMedID: 29704306 |
| Title : KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors - Natera-de Benito_2016_J.Neurol_263_517 |
| Author(s) : Natera-de Benito D , Nascimento A , Abicht A , Ortez C , Jou C , Muller JS , Evangelista T , Topf A , Thompson R , Jimenez-Mallebrera C , Colomer J , Lochmuller H |
| Ref : Journal of Neurology , 263 :517 , 2016 |
| Abstract : |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| 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 |