Report for Beeson D

General

Full name : Beeson David

First name : David

Mail : Neurosciences Group, Institut of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DU,

Zip Code :

City :

Country : United Kingdom

Email : david.beeson@ndcn.ox.ac.uk

Phone :

Fax :

Website :

Directory :

References (36)

Title : Unraveling the molecular interactions between alpha7 nicotinic receptor and a RIC3 variant associated with backward speech - Pradhan_2024_Cell.Mol.Life.Sci_81_129
Author(s) : Pradhan A , Mounford H , Peixinho J , Rea E , Epeslidou E , Scott JS , Cull J , Maxwell S , Webster R , Beeson D , Dong YY , Prekovic S , Bermudez I , Newbury DF
Ref : Cell Mol Life Sciences , 81 :129 , 2024
Abstract : Pradhan_2024_Cell.Mol.Life.Sci_81_129
ESTHER : Pradhan_2024_Cell.Mol.Life.Sci_81_129
PubMedSearch : Pradhan_2024_Cell.Mol.Life.Sci_81_129
PubMedID: 38472514

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 : 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 : Bonanno_2020_Neuromuscul.Disord__
ESTHER : Bonanno_2020_Neuromuscul.Disord__
PubMedSearch : Bonanno_2020_Neuromuscul.Disord__
PubMedID: 32360402

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 : 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 : Collagen Q--a potential target for autoantibodies in myasthenia gravis - Zoltowska_2015_J.Neurol.Sci_348_241
Author(s) : Zoltowska Katarzyna M , Belaya K , Leite M , Patrick W , Vincent A , Beeson D
Ref : Journal of Neurology Sci , 348 :241 , 2015
Abstract : Zoltowska_2015_J.Neurol.Sci_348_241
ESTHER : Zoltowska_2015_J.Neurol.Sci_348_241
PubMedSearch : Zoltowska_2015_J.Neurol.Sci_348_241
PubMedID: 25577314

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 : 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 : 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 : LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin - Maselli_2012_Hum.Genet_131_1123
Author(s) : Maselli RA , Fernandez JM , Arredondo J , Navarro C , Ngo M , Beeson D , Cagney O , Williams DC , Wollmann RL , Yarov-Yarovoy V , Ferns MJ
Ref : Hum Genet , 131 :1123 , 2012
Abstract : Maselli_2012_Hum.Genet_131_1123
ESTHER : Maselli_2012_Hum.Genet_131_1123
PubMedSearch : Maselli_2012_Hum.Genet_131_1123
PubMedID: 22205389

Title : Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies - Robb_2011_Neuromuscul.Disord_21_379
Author(s) : Robb SA , Sewry CA , Dowling JJ , Feng L , Cullup T , Lillis S , Abbs S , Lees MM , Laporte J , Manzur AY , Knight RK , Mills KR , Pike MG , Kress W , Beeson D , Jungbluth H , Pitt MC , Muntoni F
Ref : Neuromuscular Disorders , 21 :379 , 2011
Abstract : Robb_2011_Neuromuscul.Disord_21_379
ESTHER : Robb_2011_Neuromuscul.Disord_21_379
PubMedSearch : Robb_2011_Neuromuscul.Disord_21_379
PubMedID: 21440438

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 : Voluntary partial retraction of: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes -
Author(s) : Croxen R , Hatton C , Shelley C , Brydson M , Chauplannaz G , Oosterhuis H , Vincent A , Newsom-Davis J , Colquhoun D , Beeson D
Ref : Neurology , 72 :294 , 2009
PubMedID: 19153382

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 : Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia' - Slater_2006_Brain_129_2061
Author(s) : Slater CR , Fawcett PR , Walls TJ , Lyons PR , Bailey SJ , Beeson D , Young C , Gardner-Medwin D
Ref : Brain , 129 :2061 , 2006
Abstract : Slater_2006_Brain_129_2061
ESTHER : Slater_2006_Brain_129_2061
PubMedSearch : Slater_2006_Brain_129_2061
PubMedID: 16870884

Title : Inhibition of acetylcholine receptor function by seronegative myasthenia gravis non-IgG factor correlates with desensitisation - Spreadbury_2005_J.Neuroimmunol_162_149
Author(s) : Spreadbury I , Kishore U , Beeson D , Vincent A
Ref : Journal of Neuroimmunology , 162 :149 , 2005
Abstract : Spreadbury_2005_J.Neuroimmunol_162_149
ESTHER : Spreadbury_2005_J.Neuroimmunol_162_149
PubMedSearch : Spreadbury_2005_J.Neuroimmunol_162_149
PubMedID: 15833370

Title : Alpha7-acetylcholine receptor antibodies in two patients with Rasmussen encephalitis - Watson_2005_Neurology_65_1802
Author(s) : Watson R , Jepson JE , Bermudez I , Alexander S , Hart Y , McKnight K , Roubertie A , Fecto F , Valmier J , Sattelle DB , Beeson D , Vincent A , Lang B
Ref : Neurology , 65 :1802 , 2005
Abstract : Watson_2005_Neurology_65_1802
ESTHER : Watson_2005_Neurology_65_1802
PubMedSearch : Watson_2005_Neurology_65_1802
PubMedID: 16344526

Title : Calcium conductance and choline sensitivity of slow channel syndrome acetylcholine receptor mutants. -
Author(s) : Spreadbury I , Webster R , Beeson D , Vincent A
Ref : Cholinergic Mechanisms, CRC Press :717 , 2004
PubMedID:

Title : Antibodies to acetylcholine receptors and MuSK in myasthenia gravis and related disorders. -
Author(s) : Vincent A , McConville J , Plesed P , Tang T , Jacobson L , Polizzi A , Riemsersma S , Newland C , Beeson D , Newsom-Davis J , Hoch W
Ref : Cholinergic Mechanisms, CRC Press :227 , 2004
PubMedID:

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 : 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 : Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes - Beeson_2003_Ann.N.Y.Acad.Sci_998_114
Author(s) : Beeson D , Webster R , Ealing J , Croxen R , Brownlow S , Brydson M , Newsom-Davis J , Slater CR , Hatton C , Shelley C , Colquhoun D , Vincent A
Ref : Annals of the New York Academy of Sciences , 998 :114 , 2003
Abstract : Beeson_2003_Ann.N.Y.Acad.Sci_998_114
ESTHER : Beeson_2003_Ann.N.Y.Acad.Sci_998_114
PubMedSearch : Beeson_2003_Ann.N.Y.Acad.Sci_998_114
PubMedID: 14592868

Title : Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits - Hatton_2003_J.Physiol_547_729
Author(s) : Hatton CJ , Shelley C , Brydson M , Beeson D , Colquhoun D
Ref : Journal of Physiology , 547 :729 , 2003
Abstract : Hatton_2003_J.Physiol_547_729
ESTHER : Hatton_2003_J.Physiol_547_729
PubMedSearch : Hatton_2003_J.Physiol_547_729
PubMedID: 12562900

Title : Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes - Croxen_2002_Neurology_59_162
Author(s) : Croxen R , Hatton C , Shelley C , Brydson M , Chauplannaz G , Oosterhuis H , Vincent A , Newsom-Davis J , Colquhoun D , Beeson D
Ref : Neurology , 59 :162 , 2002
Abstract : Croxen_2002_Neurology_59_162
ESTHER : Croxen_2002_Neurology_59_162
PubMedSearch : Croxen_2002_Neurology_59_162
PubMedID: 12141316

Title : End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations - Croxen_2001_Brain_124_1362
Author(s) : Croxen R , Young C , Slater C , Haslam S , Brydson M , Vincent A , Beeson D
Ref : Brain , 124 :1362 , 2001
Abstract : Croxen_2001_Brain_124_1362
ESTHER : Croxen_2001_Brain_124_1362
PubMedSearch : Croxen_2001_Brain_124_1362
PubMedID: 11408331

Title : The conformation of the main immunogenic region on the alpha-subunit of muscle acetylcholine receptor is affected by neighboring receptor subunits - Fostieri_2000_FEBS.Lett_481_127
Author(s) : Fostieri E , Beeson D , Tzartos SJ
Ref : FEBS Letters , 481 :127 , 2000
Abstract : Fostieri_2000_FEBS.Lett_481_127
ESTHER : Fostieri_2000_FEBS.Lett_481_127
PubMedSearch : Fostieri_2000_FEBS.Lett_481_127
PubMedID: 10996310

Title : Monoclonal antibodies raised against human acetylcholine receptor bind to all five subunits of the fetal isoform - Jacobson_1999_J.Neuroimmunol_98_112
Author(s) : Jacobson L , Beeson D , Tzartos SJ , Vincent A
Ref : Journal of Neuroimmunology , 98 :112 , 1999
Abstract : Jacobson_1999_J.Neuroimmunol_98_112
ESTHER : Jacobson_1999_J.Neuroimmunol_98_112
PubMedSearch : Jacobson_1999_J.Neuroimmunol_98_112
PubMedID: 10430044

Title : Regulation of acetylcholine receptor gene expression in human myasthenia gravis muscles. Evidences for a compensatory mechanism triggered by receptor loss - Guyon_1998_J.Clin.Invest_102_249
Author(s) : Guyon T , Wakkach A , Poea S , Mouly V , Klingel-Schmitt I , Levasseur P , Beeson D , Asher O , Tzartos SJ , Berrih-Aknin S
Ref : J Clinical Investigation , 102 :249 , 1998
Abstract : Guyon_1998_J.Clin.Invest_102_249
ESTHER : Guyon_1998_J.Clin.Invest_102_249
PubMedSearch : Guyon_1998_J.Clin.Invest_102_249
PubMedID: 9649579

Title : Genes at the junction--candidates for congenital myasthenic syndromes. - Vincent_1997_Trends.Neurosci_20_15
Author(s) : Vincent A , Newland C , Croxen R , Beeson D
Ref : Trends in Neurosciences , 20 :15 , 1997
Abstract : Vincent_1997_Trends.Neurosci_20_15
ESTHER : Vincent_1997_Trends.Neurosci_20_15
PubMedSearch : Vincent_1997_Trends.Neurosci_20_15
PubMedID: 9004414

Title : Stable functional expression of the adult subtype of human muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the epsilon subunit - Beeson_1996_Neurosci.Lett_207_57
Author(s) : Beeson D , Amar M , Bermudez I , Vincent A , Newsom-Davis J
Ref : Neuroscience Letters , 207 :57 , 1996
Abstract : Beeson_1996_Neurosci.Lett_207_57
ESTHER : Beeson_1996_Neurosci.Lett_207_57
PubMedSearch : Beeson_1996_Neurosci.Lett_207_57
PubMedID: 8710210