D
David Beeson
Researcher at University of Oxford
Publications - 260
Citations - 13306
David Beeson is an academic researcher from University of Oxford. The author has contributed to research in topics: Acetylcholine receptor & Congenital myasthenic syndrome. The author has an hindex of 61, co-authored 252 publications receiving 12107 citations. Previous affiliations of David Beeson include Churchill Hospital & Karolinska Institutet.
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Journal ArticleDOI
N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes
Sarosh R. Irani,Katarzyna Bera,Patrick Waters,Luigi Zuliani,Susan Maxwell,Michael S. Zandi,Manuel A. Friese,Manuel A. Friese,Ian Galea,Dimitri M. Kullmann,David Beeson,Bethan Lang,Christian G. Bien,Angela Vincent +13 more
TL;DR: Overall, the data support a model in which the early features of N-methyl-d-aspartate receptor encephalopathy are associated with cerebrospinal fluid lymphocytosis, and the later features with appearance of oligoclonal bands, which is associated with restriction to the first stage.
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Johannes N. Spelbrink,Fang Yuan Li,Valeria Tiranti,Kaisu Nikali,Qiu Ping Yuan,Muhammed Tariq,Sjoerd Wanrooij,Nuria Garrido,Giacomo P. Comi,Lucia Morandi,Lucio Santoro,Antonio Toscano,Gian Maria Fabrizi,Hannu Somer,R Croxen,David Beeson,Joanna Poulton,Anu Suomalainen,Howard T. Jacobs,Massimo Zeviani,Catharina Larsson +20 more
TL;DR: A novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases is reported, inferred to be critical for lifetime maintenance of human mtDNA integrity.
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IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis.
Maria Isabel Leite,Saiju Jacob,Stuart Viegas,Judy Cossins,Linda Clover,Bryan Paul Morgan,David Beeson,Nick Willcox,Angela Vincent +8 more
TL;DR: There was a correlation between serum binding to clustered AChR and complement deposition on myoid cells in patients’ thymus tissue and the approaches used have applicability to other antibody-mediated conditions.
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Detection and characterization of MuSK antibodies in seronegative myasthenia gravis
John McConville,Maria Elena Farrugia,David Beeson,Uday Kishore,Richard Metcalfe,John Newsom-Davis,Angela Vincent,Angela Vincent +7 more
TL;DR: Antibodies to rat muscle specific kinase, MuSK, have recently been identified in some generalized “seronegative” myasthenia gravis (SNMG) patients, who are often females with marked bulbar symptoms.
Journal ArticleDOI
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor,Jenny C. Taylor,Hilary C. Martin,Stefano Lise,John Broxholme,Jean-Baptiste Cazier,Andrew J. Rimmer,Alexander Kanapin,Gerton Lunter,Simon Fiddy,Chris Allan,A. Radu Aricescu,Moustafa Attar,Christian Babbs,Jennifer Becq,David Beeson,Celeste Bento,P Bignell,Edward Blair,Veronica J. Buckle,Katherine R. Bull,Katherine R. Bull,Ondrej Cais,Holger Cario,Helen Chapel,Richard R. Copley,Richard R. Copley,Richard J. Cornall,Jude Craft,Jude Craft,Karin Dahan,Emma E. Davenport,Calliope A. Dendrou,Olivier Devuyst,Aimee L. Fenwick,Jonathan Flint,Lars Fugger,Rodney D. Gilbert,Anne Goriely,Angie Green,Ingo H. Greger,Russell J. Grocock,Anja V. Gruszczyk,Robert W. Hastings,Edouard Hatton,Doug Higgs,Adrian V. S. Hill,Adrian V. S. Hill,Christopher Holmes,Christopher Holmes,Malcolm F. Howard,Malcolm F. Howard,Linda Hughes,Peter Humburg,David W. Johnson,Fredrik Karpe,Zoya Kingsbury,Usha Kini,Julian C. Knight,Jon P. Krohn,Sarah Lamble,Craig B. Langman,Lorne Lonie,Joshua Luck,Davis J. McCarthy,Simon J. McGowan,Mary Frances McMullin,Kerry A. Miller,Lisa Murray,Andrea H. Németh,M. Andrew Nesbit,David J. Nutt,Elizabeth Ormondroyd,Annette Bang Oturai,Alistair T. Pagnamenta,Alistair T. Pagnamenta,Smita Y. Patel,Melanie J. Percy,Nayia Petousi,Paolo Piazza,Sian E. Piret,Guadalupe Polanco-Echeverry,Niko Popitsch,Niko Popitsch,Fiona Powrie,Christopher W. Pugh,Lynn Quek,Peter A. Robbins,Kathryn J. H. Robson,Alexandra Russo,Natasha Sahgal,Pauline A. van Schouwenburg,Anna Schuh,Anna Schuh,Earl D. Silverman,Alison Simmons,Per Soelberg Sørensen,Elizabeth Sweeney,John Taylor,John Taylor,Rajesh V. Thakker,Ian Tomlinson,Ian Tomlinson,Amy Trebes,Stephen R.F. Twigg,Holm H. Uhlig,Paresh Vyas,Timothy J. Vyse,Steven A. Wall,Hugh Watkins,Michael P. Whyte,Lorna Witty,Ben Wright,Christopher Yau,David Buck,Sean Humphray,Peter J. Ratcliffe,John I. Bell,Andrew O.M. Wilkie,David Bentley,Peter Donnelly,Peter Donnelly,Gilean McVean +122 more
TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.