Publications by authors named "David Beeson"

100Publications

Congenital myasthenic syndrome due to a mutation: a new disease pathway for impaired synaptic transmission.

Brain Commun 2020 18;2(2):fcaa174. Epub 2020 Oct 18.

Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/braincomms/fcaa174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660151PMC
October 2020

The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle.

Front Mol Neurosci 2020 8;13:581097. Epub 2020 Sep 8.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnmol.2020.581097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506097PMC
September 2020

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.

Hum Mol Genet 2020 Aug;29(14):2325-2336

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddaa116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424765PMC
August 2020

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.

Neuromuscul Disord 2020 04 24;30(4):336-339. Epub 2020 Feb 24.

Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada; Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2020.02.012DOI Listing
April 2020

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.

J Neurol Neurosurg Psychiatry 2020 05 12;91(5):526-532. Epub 2020 Mar 12.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2019-322640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231439PMC
May 2020

Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Neuromuscul Disord 2020 02 21;30(2):120-127. Epub 2019 Nov 21.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.11.008DOI Listing
February 2020

SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.

Neurol Neuroimmunol Neuroinflamm 2020 01 12;7(1). Epub 2019 Dec 12.

From the Department of Clinical Neurosciences (S.H., M.C., M.W., P.M.R.C., J.C., D.B., A.V.), Weatherall Institute of Molecular Medicine and Nuffield, University of Oxford, UK; Department of Clinical and Experimental Medicine (A.D.R., M.M., R.R.), Neurology Unit, Pisa; and Department of Neuroscience (A.E.), Catholic University, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXI.0000000000000645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935836PMC
January 2020

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Proc Natl Acad Sci U S A 2019 10 30;116(42):21228-21235. Epub 2019 Sep 30.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DS, United Kingdom;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1908284116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800317PMC
October 2019

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.

Curr Opin Neurol 2019 10;32(5):696-703

Nuffield Department fo Clinical Neuroscience, Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0000000000000736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735524PMC
October 2019

Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line.

J Physiol 2019 07 17;597(14):3713-3725. Epub 2019 Jun 17.

Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1113/JP277819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767687PMC
July 2019

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Orphanet J Rare Dis 2018 11 26;13(1):211. Epub 2018 Nov 26.

Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0955-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260762PMC
November 2018

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

Int J Mol Sci 2018 Jun 5;19(6). Epub 2018 Jun 5.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms19061677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032286PMC
June 2018

Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.

J Neuromuscul Dis 2018 ;5(2):231-240

Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-170293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004912PMC
November 2018

Seronegative antibody-mediated neurology after immune checkpoint inhibitors.

Ann Clin Transl Neurol 2018 May 25;5(5):640-645. Epub 2018 Mar 25.

Oxford Autoimmune Neurology Group Nuffield Department of Clinical Neurosciences University of Oxford John Radcliffe Hospital Oxford United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945956PMC
May 2018

Therapeutic strategies for congenital myasthenic syndromes.

Ann N Y Acad Sci 2018 01;1412(1):129-136

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nyas.13538DOI Listing
January 2018

Serological and experimental studies in different forms of myasthenia gravis.

Ann N Y Acad Sci 2018 02 29;1413(1):143-153. Epub 2018 Jan 29.

Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nyas.13592DOI Listing
February 2018

Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.

Ann N Y Acad Sci 2018 02 24;1413(1):163-169. Epub 2018 Jan 24.

Nuffield Department of Clinical Neuroscience, Level 3 The West Wing, The John Radcliffe, Oxford, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/nyas.13576
Publisher Site
http://dx.doi.org/10.1111/nyas.13576DOI Listing
February 2018

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.

Orphanet J Rare Dis 2017 12 19;12(1):182. Epub 2017 Dec 19.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0732-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735900PMC
December 2017

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

Neuromuscul Disord 2017 Jun 10;27(6):557-564. Epub 2017 Mar 10.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Department of Neurology, Jing'an District Centre Hospital of Shanghai, Shanghai, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.03.004DOI Listing
June 2017

Multiple roles of integrin-α3 at the neuromuscular junction.

J Cell Sci 2017 05 6;130(10):1772-1784. Epub 2017 Apr 6.

Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK

View Article

Download full-text PDF

Source
http://jcs.biologists.org/lookup/doi/10.1242/jcs.201103
Publisher Site
http://dx.doi.org/10.1242/jcs.201103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450193PMC
May 2017

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

J Neuropathol Exp Neurol 2016 12;75(12):1171-1178

From the Department of Neurology, Southmead Hospital, Bristol, UK (SB); Department of Neuropathology, Royal Victoria Hospital, N. Ireland, Belfast, Northern Ireland (EGH); UCL Institute of Neurology, Queen Square, London, UK (QG, HH, JLH); MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK (MP, RQ, MGH); Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK (SJ); Department of Cellular Pathology, Queen Elizabeth Hospital, Birmingham, UK (EC); King's College London, MRC London Neurodegenerative Diseases Brain Bank, London, UK (SA-S); Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK (CAS); and Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK (DB)

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnen/nlw096DOI Listing
December 2016

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

BMC Neurol 2016 Oct 7;16(1):195. Epub 2016 Oct 7.

Neuromuscular Disorders Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, OX3 9DS,, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-016-0716-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055717PMC
October 2016

Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.

Am J Pathol 2016 10;186(10):2559-68

Neuroimmunology Group, Division of Neuroscience, School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajpath.2016.05.025DOI Listing
October 2016

Congenital myasthenic syndromes: recent advances.

Authors:
David Beeson

Curr Opin Neurol 2016 10;29(5):565-71

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0000000000000370DOI Listing
October 2016

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

J Neurol Neurosurg Psychiatry 2016 08 4;87(8):802-9. Epub 2016 May 4.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2016-313163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047737PMC
August 2016

Late presentations of congenital myasthenic syndromes: How many do we miss?

Muscle Nerve 2016 10 9;54(4):721-7. Epub 2016 Jul 9.

Neuroimmunology Clinic, Concord Hospital and University of Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25085DOI Listing
October 2016

Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome.

Neurology 2016 Feb 20;86(7):692-4. Epub 2016 Jan 20.

From Evelina's Children Hospital (N.M.A., H.J.), Guy's & St. Thomas' Hospital NHS Foundation Trust, London; University of Oxford (Y.H., D.B., A.V.); John Radcliffe Hospital (J.P.), Oxford; and King's College (H.J.), London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762416PMC
February 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

Antibodies to GABAA receptor α1 and γ2 subunits: clinical and serologic characterization.

Neurology 2015 Mar 30;84(12):1233-41. Epub 2015 Jan 30.

From the Nuffield Department of Clinical Neurosciences (P.P., R.P., S.M., A.N., S.R.I., C.B., D.B., B.L., P.W., A.V.) and the Department of Physiology, Anatomy and Genetics (H.B.K.), University of Oxford; St George's Healthcare NHS Trust (J.A.C.), Tooting, London; the Centre for Neuroscience & Trauma, Blizard Institute (A.M.), Barts and The London School of Medicine and Dentistry, Queen Mary University of London; and The Walton Centre Foundation Trust (A.J.), Liverpool, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366091PMC
March 2015

Collagen Q--a potential target for autoantibodies in myasthenia gravis.

J Neurol Sci 2015 Jan 18;348(1-2):241-4. Epub 2014 Dec 18.

Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2014.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044427PMC
January 2015

Congenital myasthenic syndrome caused by mutations in DPAGT.

Neuromuscul Disord 2015 Mar 26;25(3):253-6. Epub 2014 Nov 26.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.11.013DOI Listing
March 2015

Inherited disorders of the neuromuscular junction: an update.

J Neurol 2014 Nov 11;261(11):2234-43. Epub 2014 Oct 11.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7520-7DOI Listing
November 2014

Congenital myasthenic syndromes and the neuromuscular junction.

Curr Opin Neurol 2014 Oct;27(5):566-75

aNuffield Department of Clinical Neurosciences, University of Oxford bNeurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0000000000000134DOI Listing
October 2014

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Neuromuscul Disord 2014 Dec 30;24(12):1103-10. Epub 2014 Jul 30.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966140061
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2014.07.005DOI Listing
December 2014

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.

Neuromuscul Disord 2014 Feb 6;24(2):143-7. Epub 2013 Nov 6.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966130098
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2013.10.009DOI Listing
February 2014

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.

PLoS One 2013 7;8(11):e80695. Epub 2013 Nov 7.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080695PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820634PMC
February 2015

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Neuromuscul Disord 2013 Nov 3;23(11):883-91. Epub 2013 Jul 3.

Department of Paediatric Neurology, University Children's Hospital, Zurich, Switzerland; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.06.002DOI Listing
November 2013

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Neuromuscul Disord 2013 Jun 13;23(6):469-72. Epub 2013 Apr 13.

Neurology Department, Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746154PMC
June 2013

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Hum Mol Genet 2013 Jul 8;22(14):2905-13. Epub 2013 Apr 8.

Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DS Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt145DOI Listing
July 2013

Congenital myasthenic syndromes: an update.

Pract Neurol 2013 Apr;13(2):80-91

Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/practneurol-2012-000404DOI Listing
April 2013

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

J Neurol Neurosurg Psychiatry 2013 Oct 27;84(10):1119-25. Epub 2013 Feb 27.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://jnnp.bmj.com/content/84/10/1119.full.pdf
Web Search
http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-304716
Publisher Site
http://dx.doi.org/10.1136/jnnp-2012-304716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044426PMC
October 2013

Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.

Muscle Nerve 2013 Feb 28;47(2):279-82. Epub 2012 Dec 28.

Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23534DOI Listing
February 2013

The search for new antigenic targets in myasthenia gravis.

Ann N Y Acad Sci 2012 Dec;1275:123-8

Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2012.06833.xDOI Listing
December 2012

Synaptic dysfunction in congenital myasthenic syndromes.

Authors:
David Beeson

Ann N Y Acad Sci 2012 Dec;1275:63-9

Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nyas.12000DOI Listing
December 2012

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Ann N Y Acad Sci 2012 Dec;1275:29-35

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2012.06790.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044425PMC
December 2012

Antibodies identified by cell-based assays in myasthenia gravis and associated diseases.

Ann N Y Acad Sci 2012 Dec;1274:92-8

Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2012.06789.xDOI Listing
December 2012

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Neuromuscul Disord 2013 Feb 5;23(2):170-5. Epub 2012 Dec 5.

Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2012.11.004DOI Listing
February 2013

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Am J Hum Genet 2012 Jul 27;91(1):193-201. Epub 2012 Jun 27.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397259PMC
July 2012

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Hum Mol Genet 2012 Sep 1;21(17):3765-75. Epub 2012 Jun 1.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds198DOI Listing
September 2012

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Brain 2012 Apr 1;135(Pt 4):1070-80. Epub 2012 Mar 1.

Neurosciences Group, Weatherall Institute of Molecular Medicine, Headley Way, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aws016DOI Listing
April 2012

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Neuromuscul Disord 2012 Jun 9;22(6):566-76. Epub 2012 Jan 9.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.12.004DOI Listing
June 2012

Clinical features in a series of fast channel congenital myasthenia syndrome.

Neuromuscul Disord 2012 Feb 21;22(2):112-7. Epub 2011 Sep 21.

Department of Neurology, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.08.002DOI Listing
February 2012

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

J Neuroophthalmol 2011 Mar;31(1):42-7

Department of Pediatrics, College of Medicine, King Saud University, Division of Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WNO.0b013e3181f50beaDOI Listing
March 2011

Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China.

J Neurol Sci 2011 Feb 4;301(1-2):71-6. Epub 2010 Dec 4.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, England, UK.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S0022510X1000538
Publisher Site
http://dx.doi.org/10.1016/j.jns.2010.10.023DOI Listing
February 2011

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.

Science 2010 Jul 1;329(5990):458-61. Epub 2010 Jul 1.

Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1186146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890903PMC
July 2010

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

Int J Pediatr Otorhinolaryngol 2010 Sep 15;74(9):991-4. Epub 2010 Jun 15.

Department of Otolaryngology, Great Ormond Street Hospital for Children and Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2010.05.022DOI Listing
September 2010

Myasthenia and related disorders of the neuromuscular junction.

J Neurol Neurosurg Psychiatry 2010 Aug 14;81(8):850-7. Epub 2010 Jun 14.

UCL Institute of Neurology, Queen Square, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp.2008.169367DOI Listing
August 2010

A treatable muscle disease.

Pract Neurol 2009 Aug;9(4):233-6

Department of Neurology, Wessex Neurological Centre, Southampton General Hospital, Southampton SO16 6YD, UK.

View Article

Download full-text PDF

Source
http://pn.bmj.com/cgi/doi/10.1136/jnnp.2009.181966
Publisher Site
http://dx.doi.org/10.1136/jnnp.2009.181966DOI Listing
August 2009

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

J Neurol 2009 Oct 21;256(10):1719-23. Epub 2009 Jun 21.

Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-009-5190-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758211PMC
October 2009

The congenital myasthenic syndromes.

J Neuroimmunol 2008 Sep 15;201-202:2-5. Epub 2008 Aug 15.

Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jneuroim.2008.05.030DOI Listing
September 2008

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.

J Neuroimmunol 2008 Sep 26;201-202:28-32. Epub 2008 Jul 26.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jneuroim.2008.06.016DOI Listing
September 2008

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Ann N Y Acad Sci 2008 ;1132:99-103

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1196/annals.1405.049DOI Listing
September 2008

Myasthenia gravis seronegative for acetylcholine receptor antibodies.

Ann N Y Acad Sci 2008 ;1132:84-92

Neurosciences Group, Weatherall Institute of Molecular Medicine and Department of Clinical Neurology, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1196/annals.1405.020DOI Listing
September 2008

IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis.

Brain 2008 Jul 31;131(Pt 7):1940-52. Epub 2008 May 31.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awn092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442426PMC
July 2008

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Am J Hum Genet 2008 Jan;82(1):222-7

Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2007.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253973PMC
January 2008

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

J Biol Chem 2008 Feb 29;283(9):5518-24. Epub 2007 Dec 29.

Department of Cell Regulation, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo-ku, Yushima, Tokyo 113-8510, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M708607200DOI Listing
February 2008

Hairpin DNAzymes: a new tool for efficient cellular gene silencing.

J Gene Med 2007 Aug;9(8):727-38

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgm.1061DOI Listing
August 2007

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Brain 2007 Jun 23;130(Pt 6):1507-15. Epub 2007 Apr 23.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awm072DOI Listing
June 2007

Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures.

J Neuroimmunol 2007 Apr 1;185(1-2):136-44. Epub 2007 Mar 1.

Neurosciences Group, Weatherall Institute of Molecular Medicine, Department of Clinical Neurology, University of Oxford, UK.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S016557280700010
Publisher Site
http://dx.doi.org/10.1016/j.jneuroim.2007.01.010DOI Listing
April 2007

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Brain 2006 Oct 31;129(Pt 10):2773-83. Epub 2006 Aug 31.

Neurosciences Group, Weatherall Institute of Molecular Medicine, Churchill Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awl219DOI Listing
October 2006

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Science 2006 Sep 17;313(5795):1975-8. Epub 2006 Aug 17.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1130837DOI Listing
September 2006