Stephanie A Robb
Affiliation: Great Ormond Street
- Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathiesStephanie 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...
- Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndromeChris 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....
- DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea 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...
- Congenital myopathies: Natural history of a large pediatric cohortIrene 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...