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| Title : Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter - Rodriguez_2021_Neuromuscul.Disord_31_21 |
| Author(s) : Rodriguez Cruz PM , Hughes I , Manzur A , Munot P , Ramdas S , Wright R , Breen C , Pitt M , Pagnamenta AT , Taylor JC , Palace J , Beeson D |
| Ref : Neuromuscular Disorders , 31 :21 , 2021 |
| Abstract : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| ESTHER : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedSearch : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedID: 33250374 |
| 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 : Myasthenia gravis - Gilhus_2019_Nat.Rev.Dis.Primers_5_30 |
| Author(s) : Gilhus NE , Tzartos S , Evoli A , Palace J , Burns TM , Verschuuren J |
| Ref : Nat Rev Dis Primers , 5 :30 , 2019 |
| Abstract : Gilhus_2019_Nat.Rev.Dis.Primers_5_30 |
| ESTHER : Gilhus_2019_Nat.Rev.Dis.Primers_5_30 |
| PubMedSearch : Gilhus_2019_Nat.Rev.Dis.Primers_5_30 |
| PubMedID: 31048702 |
| Title : Therapeutic strategies for congenital myasthenic syndromes - Lee_2018_Ann.N.Y.Acad.Sci_1412_129 |
| Author(s) : Lee M , Beeson D , Palace J |
| Ref : Annals of the New York Academy of Sciences , 1412 :129 , 2018 |
| Abstract : Lee_2018_Ann.N.Y.Acad.Sci_1412_129 |
| ESTHER : Lee_2018_Ann.N.Y.Acad.Sci_1412_129 |
| PubMedSearch : Lee_2018_Ann.N.Y.Acad.Sci_1412_129 |
| PubMedID: 29381222 |
| 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 myopathies with secondary neuromuscular transmission defects\; A case report and review of the literature - Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| Author(s) : Rodriguez Cruz PM , Sewry C , Beeson D , Jayawant S , Squier W , McWilliam R , Palace J |
| Ref : Neuromuscular Disorders , 24 :1103 , 2014 |
| Abstract : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| ESTHER : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| PubMedSearch : Rodriguez_2014_Neuromuscul.Disord_24_1103 |
| PubMedID: 25127990 |
| 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 : 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 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 : 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 : Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7 - Lashley_2010_Neurology_74_1517 |
| Author(s) : Lashley D , Palace J , Jayawant S , Robb S , Beeson D |
| Ref : Neurology , 74 :1517 , 2010 |
| Abstract : Lashley_2010_Neurology_74_1517 |
| ESTHER : Lashley_2010_Neurology_74_1517 |
| PubMedSearch : Lashley_2010_Neurology_74_1517 |
| PubMedID: 20458068 |
| Title : Cholinergic agonism alters cognitive processing and enhances brain functional connectivity in patients with multiple sclerosis - Cader_2009_J.Psychopharmacol_23_686 |
| Author(s) : Cader S , Palace J , Matthews PM |
| Ref : J Psychopharmacol , 23 :686 , 2009 |
| Abstract : Cader_2009_J.Psychopharmacol_23_686 |
| ESTHER : Cader_2009_J.Psychopharmacol_23_686 |
| PubMedSearch : Cader_2009_J.Psychopharmacol_23_686 |
| PubMedID: 18635705 |
| 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 |
| Title : Absence of antibodies to glutamate receptor type 3 (GluR3) in Rasmussen encephalitis - Watson_2004_Neurology_63_43 |
| Author(s) : Watson R , Jiang Y , Bermudez I , Houlihan LM , Clover L , McKnight K , Cross JH , Hart IK , Roubertie A , Valmier J , Hart Y , Palace J , Beeson D , Vincent A , Lang B |
| Ref : Neurology , 63 :43 , 2004 |
| Abstract : Watson_2004_Neurology_63_43 |
| ESTHER : Watson_2004_Neurology_63_43 |
| PubMedSearch : Watson_2004_Neurology_63_43 |
| PubMedID: 15249609 |
| Title : Potentially adaptive functional changes in cognitive processing for patients with multiple sclerosis and their acute modulation by rivastigmine - Parry_2003_Brain_126_2750 |
| Author(s) : Parry AM , Scott RB , Palace J , Smith S , Matthews PM |
| Ref : Brain , 126 :2750 , 2003 |
| Abstract : Parry_2003_Brain_126_2750 |
| ESTHER : Parry_2003_Brain_126_2750 |
| PubMedSearch : Parry_2003_Brain_126_2750 |
| PubMedID: 12958082 |