Chiara Fiorillo

TL;DR: Those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group and infants with a shorter disease duration at screening wereMore likely than those with a longer disease duration to benefit from nusineren.

TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.

TL;DR: Recommendations are proposed for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients.

TL;DR: The aim of this study was to characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and to evaluate genotype–phenotype correlations in this cohort.

TL;DR: Novel pathological defects in skeletal muscle fibres of mouse models and patients with NM are reported: irregular spacing and morphology of nuclei; disrupted nuclear envelope; altered chromatin arrangement; and disorganisation of the cortical cytoskeleton.