David Beeson

Affiliations

MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Publications (14)

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Genome medicine

Avec: John Taylor , Jude Craft , Edward Blair , Sarah Wordsworth , David Beeson , Saleel Chandratre , Judith Cossins , Tracy Lester , Andrea H Németh , Elizabeth Ormondroyd , Smita Y Patel , Alistair T Pagnamenta , Jenny C Taylor , Kate L Thomson , Hugh Watkins , Andrew O M Wilkie , Julian C Knight

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

Current opinion in neurology

Avec: An E Vanhaesebrouck , David Beeson

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Human mutation

Avec: Pedro M Rodríguez Cruz , Judith Cossins , Jonathan Cheung , Susan Maxwell , Sandeep Jayawant , Ruth Herbst , Dominic Waithe , Alexandr P Kornev , Jacqueline Palace , David Beeson

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

Proceedings of the National Academy of Sciences of the United States of America

Avec: Hakan Cetin , Max Epstein , Wei W Liu , Susan Maxwell , Pedro M Rodriguez Cruz , Judith Cossins , Angela Vincent , Richard Webster , Philip C Biggin , David Beeson

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

Neurology(R) neuroimmunology & neuroinflammation

Avec: Saif Huda , Michelangelo Cao , Anna De Rosa , Mark Woodhall , Pedro M Rodriguez Cruz , Judith Cossins , Michelangelo Maestri , Roberta Ricciardi , Amelia Evoli , David Beeson , Angela Vincent

Congenital myasthenic syndrome due to a

Brain communications

Avec: Judith Cossins , Richard Webster , Susan Maxwell , Pedro M Rodríguez Cruz , Ravi Knight , John Gareth Llewelyn , Ji-Yeon Shin , Jacqueline Palace , David Beeson

COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome.

Journal of neuromuscular diseases

Avec: Setareh Alabaf , Karen O'Connell , Sithara Ramdas , David Beeson , Jacqueline Palace

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.

Neuromuscular disorders : NMD

Avec: Christoffer Ehrstedt , Wei-Wei Liu , Carina Frykholm , David Beeson , Anna Rostedt Punga

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

Neuromuscular disorders : NMD

Avec: Carmen Bonanno , Carmelo Rodolico , Ana Töpf , Francesca Maria Foti , Wei-Wei Liu , David Beeson , Antonio Toscano , Hanns Lochmüller

Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients.

JCI insight

Avec: Kazushiro Takata , Panos Stathopoulos , Michelangelo Cao , Marina Mané-Damas , Miriam L Fichtner , Erik S Benotti , Leslie Jacobson , Patrick Waters , Sarosh R Irani , Pilar Martinez-Martinez , David Beeson , Mario Losen , Angela Vincent , Richard J Nowak , Kevin C O'Connor

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

Frontiers in molecular neuroscience

Avec: Hakan Cetin , David Beeson , Angela Vincent , Richard Webster

Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.

Journal of neuromuscular diseases

Avec: Inuka Kishara Gooneratne , Shanika Nandasiri , Susan Maxwell , Richard Webster , Judith Cossins , David Beeson , Kamal Gunaratne , Lalinka Herath , Sunethra Senanayake , Thashi Chang

Motor end-plate analysis to diagnose immune-mediated myasthenia gravis in seronegative patients.

Journal of the neurological sciences

Avec: Atsushi Nagaoka , Akira Tsujino , Hirokazu Shiraishi , Tadashi Kanamoto , Tomoaki Shima , Shunsuke Yoshimura , Teiichiro Miyazaki , Yohei Tateishi , Mitsuhiro Tsujihata , Masakatsu Motomura , Susan Maxwell , Osamu Higuchi , David Beeson , Angela Vincent

Congenital myasthenic syndromes.

Handbook of clinical neurology

Avec: David Beeson

Réseau de co-auteurs

Judith Cossins 6 collaborations

Susan Maxwell 5 collaborations

Angela Vincent 5 collaborations

Richard Webster 4 collaborations

Jacqueline Palace 3 collaborations

Pedro M Rodríguez Cruz 2 collaborations

Hakan Cetin 2 collaborations

Pedro M Rodriguez Cruz 2 collaborations

Michelangelo Cao 2 collaborations

Wei-Wei Liu 2 collaborations

John Taylor 1 collaboration

Jude Craft 1 collaboration

Edward Blair 1 collaboration

Sarah Wordsworth 1 collaboration

Saleel Chandratre 1 collaboration

Tracy Lester 1 collaboration

Andrea H Németh 1 collaboration

Elizabeth Ormondroyd 1 collaboration

Smita Y Patel 1 collaboration

Alistair T Pagnamenta 1 collaboration

Jenny C Taylor 1 collaboration

Kate L Thomson 1 collaboration

Hugh Watkins 1 collaboration

Andrew O M Wilkie 1 collaboration

Julian C Knight 1 collaboration

An E Vanhaesebrouck 1 collaboration

Jonathan Cheung 1 collaboration

Sandeep Jayawant 1 collaboration

Ruth Herbst 1 collaboration

Dominic Waithe 1 collaboration

Alexandr P Kornev 1 collaboration

Max Epstein 1 collaboration

Wei W Liu 1 collaboration

Philip C Biggin 1 collaboration

Saif Huda 1 collaboration

Anna De Rosa 1 collaboration

Mark Woodhall 1 collaboration

Michelangelo Maestri 1 collaboration

Roberta Ricciardi 1 collaboration

Amelia Evoli 1 collaboration

Ravi Knight 1 collaboration

John Gareth Llewelyn 1 collaboration

Ji-Yeon Shin 1 collaboration

Setareh Alabaf 1 collaboration

Karen O'Connell 1 collaboration

Sithara Ramdas 1 collaboration

Christoffer Ehrstedt 1 collaboration

Carina Frykholm 1 collaboration

Anna Rostedt Punga 1 collaboration

Carmen Bonanno 1 collaboration

Carmelo Rodolico 1 collaboration

Ana Töpf 1 collaboration

Francesca Maria Foti 1 collaboration

Antonio Toscano 1 collaboration

Hanns Lochmüller 1 collaboration

Kazushiro Takata 1 collaboration

Panos Stathopoulos 1 collaboration

Marina Mané-Damas 1 collaboration

Miriam L Fichtner 1 collaboration

Erik S Benotti 1 collaboration

Leslie Jacobson 1 collaboration

Patrick Waters 1 collaboration

Sarosh R Irani 1 collaboration

Pilar Martinez-Martinez 1 collaboration

Mario Losen 1 collaboration

Richard J Nowak 1 collaboration

Kevin C O'Connor 1 collaboration

Inuka Kishara Gooneratne 1 collaboration

Shanika Nandasiri 1 collaboration

Kamal Gunaratne 1 collaboration

Lalinka Herath 1 collaboration

Sunethra Senanayake 1 collaboration

Thashi Chang 1 collaboration

Atsushi Nagaoka 1 collaboration

Akira Tsujino 1 collaboration

Hirokazu Shiraishi 1 collaboration

Tadashi Kanamoto 1 collaboration

Tomoaki Shima 1 collaboration

Shunsuke Yoshimura 1 collaboration

Teiichiro Miyazaki 1 collaboration

Yohei Tateishi 1 collaboration

Mitsuhiro Tsujihata 1 collaboration

Masakatsu Motomura 1 collaboration

Osamu Higuchi 1 collaboration