Krystof Prasil

A multicenter, prospective – retrospective, epidemiological study in Czech and Slovak minors with spinal muscular atrophy treated with nusinersen

Abstract Background We used the Czech REaDY registry to collect and analyse data of paediatric patients with spinal muscular atrophy (SMA) who received nusinersen for five years. By sharing the results, we aim to increase healthcare professionals’ knowledge about this therapy. Re...

Cardiovascular Autonomic Neuropathy in Charcot–Marie–Tooth Disease: A Genotype‐Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers

ABSTRACT Background and Aims Data on cardiovascular autonomic neuropathy (CAN) are sparse in Charcot–Marie–Tooth disease. We aimed to determine the prevalence of CAN in CMT1A and CMTX1 and its associations with neuropathy severity and heart rate variability (HRV), compared with a...