Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005