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| Title : beta2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure - Vanhaesebrouck_2019_Brain_142_3713 |
| Author(s) : Vanhaesebrouck AE , Webster R , Maxwell S , Rodriguez Cruz PM , Cossins J , Wickens J , Liu WW , Cetin H , Cheung J , Ramjattan H , Palace J , Beeson D |
| Ref : Brain , 142 :3713 , 2019 |
| Abstract : Vanhaesebrouck_2019_Brain_142_3713 |
| ESTHER : Vanhaesebrouck_2019_Brain_142_3713 |
| PubMedSearch : Vanhaesebrouck_2019_Brain_142_3713 |
| PubMedID: 31633155 |
| Title : Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878 |
| Author(s) : Logan CV , Cossins J , Rodriguez Cruz PM , Parry DA , Maxwell S , Martinez-Martinez P , Riepsaame J , Abdelhamed ZA , Lake AV , Moran M , Robb S , Chow G , Sewry C , Hopkins PM , Sheridan E , Jayawant S , Palace J , Johnson CA , Beeson D |
| Ref : American Journal of Human Genetics , 97 :878 , 2015 |
| Abstract : Logan_2015_Am.J.Hum.Genet_97_878 |
| ESTHER : Logan_2015_Am.J.Hum.Genet_97_878 |
| PubMedSearch : Logan_2015_Am.J.Hum.Genet_97_878 |
| PubMedID: 26626625 |
| 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 : Cossins_2013_Brain_136_944 |
| ESTHER : Cossins_2013_Brain_136_944 |
| PubMedSearch : Cossins_2013_Brain_136_944 |
| PubMedID: 23404334 |
| Title : A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment - Webster_2013_Exp.Neurol_248C_286 |
| Author(s) : Webster RG , Cossins J , Lashley D , Maxwell S , Liu WW , Wickens JR , Martinez-Martinez P , de Baets M , Beeson D |
| Ref : Experimental Neurology , 248C :286 , 2013 |
| Abstract : Webster_2013_Exp.Neurol_248C_286 |
| ESTHER : Webster_2013_Exp.Neurol_248C_286 |
| PubMedSearch : Webster_2013_Exp.Neurol_248C_286 |
| PubMedID: 23797154 |
| Title : Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates - Belaya_2012_Am.J.Hum.Genet_91_193 |
| Author(s) : Belaya K , Finlayson S , Slater CR , Cossins J , Liu WW , Maxwell S , McGowan SJ , Maslau S , Twigg SR , Walls TJ , Pascual Pascual SI , Palace J , Beeson D |
| Ref : American Journal of Human Genetics , 91 :193 , 2012 |
| Abstract : Belaya_2012_Am.J.Hum.Genet_91_193 |
| ESTHER : Belaya_2012_Am.J.Hum.Genet_91_193 |
| PubMedSearch : Belaya_2012_Am.J.Hum.Genet_91_193 |
| PubMedID: 22742743 |
| Title : Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome - Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| Author(s) : Belaya K , Finlayson S , Cossins J , Liu WW , Maxwell S , Palace J , Beeson D |
| Ref : Annals of the New York Academy of Sciences , 1275 :29 , 2012 |
| Abstract : Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| ESTHER : Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| PubMedSearch : Belaya_2012_Ann.N.Y.Acad.Sci_1275_29 |
| PubMedID: 23278575 |
| Title : Congenital myasthenic syndromes and the formation of the neuromuscular junction - Beeson_2008_Ann.N.Y.Acad.Sci_1132_99 |
| Author(s) : Beeson D , Webster R , Cossins J , Lashley D , Spearman H , Maxwell S , Slater CR , Newsom-Davis J , Palace J , Vincent A |
| Ref : Annals of the New York Academy of Sciences , 1132 :99 , 2008 |
| Abstract : Beeson_2008_Ann.N.Y.Acad.Sci_1132_99 |
| ESTHER : Beeson_2008_Ann.N.Y.Acad.Sci_1132_99 |
| PubMedSearch : Beeson_2008_Ann.N.Y.Acad.Sci_1132_99 |
| PubMedID: 18567858 |
| Title : Clinical features of the DOK7 neuromuscular junction synaptopathy - Palace_2007_Brain_130_1507 |
| Author(s) : Palace J , Lashley D , Newsom-Davis J , Cossins J , Maxwell S , Kennett R , Jayawant S , Yamanashi Y , Beeson D |
| Ref : Brain , 130 :1507 , 2007 |
| Abstract : Palace_2007_Brain_130_1507 |
| ESTHER : Palace_2007_Brain_130_1507 |
| PubMedSearch : Palace_2007_Brain_130_1507 |
| PubMedID: 17452375 |
| 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 : Beeson_2006_Science_313_1975 |
| ESTHER : Beeson_2006_Science_313_1975 |
| PubMedSearch : Beeson_2006_Science_313_1975 |
| PubMedID: 16917026 |