Stephanie A Robb

Summary

Affiliation: Great Ormond Street
Country: UK

Publications

  1. ncbi request reprint Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
    Stephanie A Robb
    The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Neuromuscul Disord 21:379-86. 2011
  2. ncbi request reprint Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome
    Chris G Jephson
    Department of Otolaryngology, Great Ormond Street Hospital for Children and Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK
    Int J Pediatr Otorhinolaryngol 74:991-4. 2010
  3. ncbi request reprint DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children
    Andrea Klein
    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
    Neuromuscul Disord 23:883-91. 2013
  4. ncbi request reprint Congenital myopathies: Natural history of a large pediatric cohort
    Irene Colombo
    From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders I C, M S, A Y M, S A R, V G, C S, F M, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK Neuromuscular Unit I C, Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan Muscle Pathology and Neuroimmunology Unit L M, Foundation IRCCS Neurological Institute C Besta, Milan, Italy DNA Laboratory T C, M Y, GSTS Pathology, Guy s Hospital, London University College London Department of Neurology R P, National Hospital for Neurology and Neurosurgery, London Wolfson Centre for Inherited Neuromuscular Diseases RJAH C S, Oswestry Department of Paediatric Neurology H J, Evelina Children s Hospital, London Randall Division for Cell and Molecular Biophysics H J, Muscle Signalling Section, King s College, London and Clinical Neuroscience Division H J, IoP, London, UK
    Neurology 84:28-35. 2015

Collaborators

  • Heinz Jungbluth
  • David Beeson
  • James J Dowling
  • Kerry R Mills
  • Chris G Jephson
  • Irene Colombo
  • Adnan Y Manzur
  • Rahul Phadke
  • Francesco Muntoni
  • Andrea Klein
  • Michael Yau
  • Caroline Sewry
  • Mariacristina Scoto
  • Vasantha Gowda
  • Lorenzo Maggi
  • Thomas Cullup
  • Jacqueline Palace
  • Catherine Devile
  • Sandya Tirupathi
  • Erik H Niks
  • Caroline A Sewry
  • Sandeep Jayawant
  • Matthew C Pitt
  • Sarah Finlayson
  • Lucy Feng
  • John C McHugh

Detail Information

Publications4

  1. ncbi request reprint Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
    Stephanie A Robb
    The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Neuromuscul Disord 21:379-86. 2011
    ..Treatment with acetylcholinesterase inhibitors may benefit some CNM patients. This warrants further confirmation...
  2. ncbi request reprint Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome
    Chris G Jephson
    Department of Otolaryngology, Great Ormond Street Hospital for Children and Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK
    Int J Pediatr Otorhinolaryngol 74:991-4. 2010
    ....
  3. ncbi request reprint DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children
    Andrea Klein
    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
    Neuromuscul Disord 23:883-91. 2013
    ..Fatigability can be absent or easily missed in the first years of life...
  4. ncbi request reprint Congenital myopathies: Natural history of a large pediatric cohort
    Irene Colombo
    From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders I C, M S, A Y M, S A R, V G, C S, F M, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK Neuromuscular Unit I C, Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan Muscle Pathology and Neuroimmunology Unit L M, Foundation IRCCS Neurological Institute C Besta, Milan, Italy DNA Laboratory T C, M Y, GSTS Pathology, Guy s Hospital, London University College London Department of Neurology R P, National Hospital for Neurology and Neurosurgery, London Wolfson Centre for Inherited Neuromuscular Diseases RJAH C S, Oswestry Department of Paediatric Neurology H J, Evelina Children s Hospital, London Randall Division for Cell and Molecular Biophysics H J, Muscle Signalling Section, King s College, London and Clinical Neuroscience Division H J, IoP, London, UK
    Neurology 84:28-35. 2015
    ..To assess the natural history of congenital myopathies (CMs) due to different genotypes...