Deep learning-based, fully automated, pediatric brain segmentation

Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen

Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months

Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy

Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions

Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants

Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene

Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review

Central nervous system vasculitis from Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorder in children: A case report