| 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 : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome - Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| Author(s) : Donkervoort S , Mohassel P , Laugwitz L , Zaki MS , Kamsteeg EJ , Maroofian R , Chao KR , Verschuuren-Bemelmans CC , Horber V , Fock AJM , McCarty RM , Jain MS , Biancavilla V , McMacken G , Nalls M , Voermans NC , Elbendary HM , Snyder M , Cai C , Lehky TJ , Stanley V , Iannaccone ST , Foley AR , Lochmuller H , Gleeson J , Houlden H , Haack TB , Horvath R , Bonnemann CG |
| Ref : American Journal of Medicine Genet A , 182 :2272 , 2020 |
| Abstract : |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |
| Title : Congenital myasthenic syndrome caused by novel COL13A1 mutations - Dusl_2019_J.Neurol_266_1107 |
| Author(s) : Dusl M , Moreno T , Munell F , Macaya A , Gratacos M , Abicht A , Strom TM , Lochmuller H , Senderek J |
| Ref : Journal of Neurology , 266 :1107 , 2019 |
| Abstract : |
| PubMedSearch : Dusl_2019_J.Neurol_266_1107 |
| PubMedID: 30767057 |
| Title : Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome - McMacken_2019_Hum.Mol.Genet_28_2339 |
| Author(s) : McMacken GM , Spendiff S , Whittaker RG , O'Connor E , Howarth RM , Boczonadi V , Horvath R , Slater CR , Lochmuller H |
| Ref : Hum Mol Genet , 28 :2339 , 2019 |
| Abstract : |
| PubMedSearch : McMacken_2019_Hum.Mol.Genet_28_2339 |
| PubMedID: 31220253 |
| 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 |
| Title : Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness - Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| Author(s) : Evangelista T , Hanna M , Lochmuller H |
| Ref : J Neuromuscul Dis , 2 :S21 , 2015 |
| Abstract : |
| PubMedSearch : Evangelista_2015_J.Neuromuscul.Dis_2_S21 |
| PubMedID: 26870666 |
| Title : Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 - Cossins_2013_Brain_136_944 |
| Author(s) : Cossins J , Belaya K , Hicks D , Salih MA , Finlayson S , Carboni N , Liu WW , Maxwell S , Zoltowska K , Farsani GT , Laval S , Seidhamed MZ , Donnelly P , Bentley D , McGowan SJ , Muller J , Palace J , Lochmuller H , Beeson D |
| Ref : Brain , 136 :944 , 2013 |
| Abstract : |
| PubMedSearch : Cossins_2013_Brain_136_944 |
| PubMedID: 23404334 |
| Title : Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations - Guergueltcheva_2012_J.Neurol_259_838 |
| Author(s) : Guergueltcheva V , Muller JS , Dusl M , Senderek J , Oldfors A , Lindbergh C , Maxwell S , Colomer J , Mallebrera CJ , Nascimento A , Vilchez JJ , Muelas N , Kirschner J , Nafissi S , Kariminejad A , Nilipour Y , Bozorgmehr B , Najmabadi H , Rodolico C , Sieb JP , Schlotter B , Schoser B , Herrmann R , Voit T , Steinlein OK , Najafi A , Urtizberea A , Soler DM , Muntoni F , Hanna MG , Chaouch A , Straub V , Bushby K , Palace J , Beeson D , Abicht A , Lochmuller H |
| Ref : Journal of Neurology , 259 :838 , 2012 |
| Abstract : |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |
| Title : The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene - Reilich_2011_J.Neurol_258_1987 |
| Author(s) : Reilich P , Horvath R , Krause S , Schramm N , Turnbull DM , Trenell M , Hollingsworth KG , Gorman GS , Hans VH , Reimann J , MacMillan A , Turner L , Schollen A , Witte G , Czermin B , Holinski-Feder E , Walter MC , Schoser B , Lochmuller H |
| Ref : Journal of Neurology , 258 :1987 , 2011 |
| Abstract : |
| PubMedSearch : Reilich_2011_J.Neurol_258_1987 |
| PubMedID: 21544567 |
| Title : Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations - Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| Author(s) : Schara U , Christen HJ , Durmus H , Hietala M , Krabetz K , Rodolico C , Schreiber G , Topaloglu H , Talim B , Voss W , Pihko H , Abicht A , Muller JS , Lochmuller H |
| Ref : Eur J Paediatr Neurol , 14 :326 , 2010 |
| Abstract : |
| PubMedSearch : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| PubMedID: 19900826 |
| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
| Ref : Neurology , 73 :1926 , 2009 |
| PubMedID: 19949040 |
| 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 : |
| PubMedSearch : Richard_2008_Neurology_71_1967 |
| PubMedID: 19064877 |
| Title : Therapeutic strategies in congenital myasthenic syndromes - Schara_2008_Neurotherapeutics_5_542 |
| Author(s) : Schara U , Lochmuller H |
| Ref : Neurotherapeutics , 5 :542 , 2008 |
| Abstract : |
| PubMedSearch : Schara_2008_Neurotherapeutics_5_542 |
| PubMedID: 19019305 |
| Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
| Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
| Ref : Brain , 131 :747 , 2008 |
| Abstract : |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
| PubMedID: 18180250 |
| Title : Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine - Colomer_2006_Neuromuscul.Disord_16_329 |
| Author(s) : Colomer J , Muller JS , Vernet A , Nascimento A , Pons M , Gonzalez V , Abicht A , Lochmuller H |
| Ref : Neuromuscular Disorders , 16 :329 , 2006 |
| Abstract : |
| PubMedSearch : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedID: 16621558 |
| Title : Dok-7 mutations underlie a neuromuscular junction synaptopathy - Beeson_2006_Science_313_1975 |
| Author(s) : Beeson D , Higuchi O , Palace J , Cossins J , Spearman H , Maxwell S , Newsom-Davis J , Burke G , Fawcett P , Motomura M , Muller JS , Lochmuller H , Slater CR , Vincent A , Yamanashi Y |
| Ref : Science , 313 :1975 , 2006 |
| Abstract : |
| PubMedSearch : Beeson_2006_Science_313_1975 |
| PubMedID: 16917026 |
| Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596 |
| Author(s) : Morar B , Gresham D , Angelicheva D , Tournev I , Gooding R , Guergueltcheva V , Schmidt C , Abicht A , Lochmuller H , Tordai A , Kalmar L , Nagy M , Karcagi V , Jeanpierre M , Herczegfalvi A , Beeson D , Venkataraman V , Warwick Carter K , Reeve J , de Pablo R , Kucinskas V , Kalaydjieva L |
| Ref : American Journal of Human Genetics , 75 :596 , 2004 |
| Abstract : |
| PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596 |
| PubMedID: 15322984 |
| Title : Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene - Muller_2004_Neuropediatrics_35_183 |
| Author(s) : Muller JS , Petrova S , Kiefer R , Stucka R , Konig C , Baumeister SK , Huebner A , Lochmuller H , Abicht A |
| Ref : Neuropediatrics , 35 :183 , 2004 |
| Abstract : |
| PubMedSearch : Muller_2004_Neuropediatrics_35_183 |
| PubMedID: 15248101 |
| Title : Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease - Hunter_2003_Hum.Mutat_22_129 |
| Author(s) : Hunter M , Bernard R , Freitas E , Boyer A , Morar B , Martins IJ , Tournev I , Jordanova A , Guergelcheva V , Ishpekova B , Kremensky I , Nicholson G , Schlotter B , Lochmuller H , Voit T , Colomer J , Thomas PK , Levy N , Kalaydjieva L |
| Ref : Hum Mutat , 22 :129 , 2003 |
| Abstract : |
| PubMedSearch : Hunter_2003_Hum.Mutat_22_129 |
| PubMedID: 12872253 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome - Abicht_2002_Brain_125_1005 |
| Author(s) : Abicht A , Stucka R , Schmidt C , Briguet A , Hopfner S , Song IH , Pongratz D , Muller-Felber W , Ruegg MA , Lochmuller H |
| Ref : Brain , 125 :1005 , 2002 |
| Abstract : |
| PubMedSearch : Abicht_2002_Brain_125_1005 |
| PubMedID: 11960891 |
| Title : Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients - Abicht_1997_Eur.J.Med.Res_2_515 |
| Author(s) : Abicht A , Muller-Felber W , Fischer P , Jakob I , Kurz L , Rudel R , Mortier W , Pongratz D , Lochmuller H |
| Ref : European Journal of Medical Research , 2 :515 , 1997 |
| Abstract : |
| PubMedSearch : Abicht_1997_Eur.J.Med.Res_2_515 |
| PubMedID: 9498929 |