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Journal of Neurology, Neurosurgery, and Psychiatry|October 25, 2014
Diagnostic delays in paediatric strokeAndrew A Mallick, Vijeya Ganesan, Fenella J Kirkham, et al.Neuromuscular Disorders : NMD|March 23, 2013
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 geneNomazulu Dlamini, Dragana J Josifova, Simon M L Paine, et al.The Lancet. Neurology|December 6, 2013
Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based studyAndrew A Mallick, Vijeya Ganesan, Fenella J Kirkham, et al.Annals of Neurology|March 2, 2016
Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohortAndrew A Mallick, Vijeya Ganesan, Fenella J Kirkham, et al.Journal of Neuromuscular Diseases|January 8, 2024
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great BritainNikki Cornell, Anne-Marie Childs, Elizabeth Wraige, et al.Neuromuscular Disorders : NMD|April 26, 2011
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) geneJames J Dowling, Suzanne Lillis, Kimberley Amburgey, et al.Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.Neurology|February 28, 2018
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoyaSara C Tho-Calvi, Dominic Thompson, Dawn Saunders, et al.Neurology|August 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related MyopathyAnna Sarkozy, Mario Sa, Deborah Ridout, et al.Pageof 5