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| Title : Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome - Thimm_2020_J.Peripher.Nerv.Syst__ |
| Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M |
| Ref : J Peripher Nerv Syst , : , 2020 |
| Abstract : Thimm_2020_J.Peripher.Nerv.Syst__ |
| ESTHER : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedSearch : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedID: 32077159 |
| Gene_locus related to this paper: human-ABHD12 |
| 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 : Dusl_2019_J.Neurol_266_1107 |
| ESTHER : Dusl_2019_J.Neurol_266_1107 |
| PubMedSearch : Dusl_2019_J.Neurol_266_1107 |
| PubMedID: 30767057 |
| 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 : Natera-de Benito_2016_J.Neurol_263_517 |
| ESTHER : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| 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 : Guergueltcheva_2012_J.Neurol_259_838 |
| ESTHER : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |
| 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 : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| ESTHER : Schara_2010_Eur.J.Paediatr.Neurol_14_326 |
| 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 : 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 : Mihaylova_2008_Brain_131_747 |
| ESTHER : Mihaylova_2008_Brain_131_747 |
| 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 : Colomer_2006_Neuromuscul.Disord_16_329 |
| ESTHER : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedSearch : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedID: 16621558 |
| 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 : Morar_2004_Am.J.Hum.Genet_75_596 |
| ESTHER : Morar_2004_Am.J.Hum.Genet_75_596 |
| 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 : Muller_2004_Neuropediatrics_35_183 |
| ESTHER : Muller_2004_Neuropediatrics_35_183 |
| PubMedSearch : Muller_2004_Neuropediatrics_35_183 |
| PubMedID: 15248101 |
| 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 : Abicht_2002_Brain_125_1005 |
| ESTHER : Abicht_2002_Brain_125_1005 |
| 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 : Abicht_1997_Eur.J.Med.Res_2_515 |
| ESTHER : Abicht_1997_Eur.J.Med.Res_2_515 |
| PubMedSearch : Abicht_1997_Eur.J.Med.Res_2_515 |
| PubMedID: 9498929 |