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...