A. Silwal

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

M. Main, F. Muntoni, A. Beggs, 2020, Annals of clinical and translational neurology.

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

F. Muntoni, P. Munot, A. Manzur, 2017, The Journal of pediatrics.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

F. Muntoni, M. Reilly, P. Munot, 2018, Neuromuscular Disorders.

Cystic Leukoencephalopathy due to NDUFV1 mutation—A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria

Robert W. Taylor, C. Alston, G. Vadlamani, 2016, Journal of Pediatric Neurology.

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

M. Pane, F. Muntoni, L. Servais, 2023, Neuromuscular Disorders.

Effectiveness and tolerability of Perampanel in children, adolescents and young adults with refractory epilepsy: A UK national multicentre study

A. Rajai, T. Martland, H. J. Tan, 2017, Seizure.