Emma S. James

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Perry B. Shieh, Nancy L. Kuntz, James J. Dowling et al. · The Lancet Neurology · 2023 · 99 citations · Full text

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

Alan H. Beggs, Barry J. Byrne, S. de Chastonay et al. · Muscle & Nerve · 2017 · 78 citations · Full text

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Robert J. Graham, Francesco Muntoni, Imelda Hughes et al. · Archives of Disease in Childhood · 2019 · 41 citations · Full text

DRAVET ENGAGE. Parent caregivers of children with Dravet syndrome: Perspectives, needs, and opportunities for clinical research

Clara Juandó‐Prats, Emma S. James, Deborah A. Bilder et al. · Epilepsy & Behavior · 2021 · 34 citations · Full text

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in <i>SCN1A</i>+ Dravet syndrome: Insights from the <scp>ENVISION</scp> natural history study

Μ. Scott Perry, Ingrid E. Scheffer, Joseph Sullivan et al. · Epilepsia · 2023 · 20 citations · Full text