Caroline Deborah Stapf

Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy

Abstract Background Reliable blood biomarkers for longitudinal monitoring in adolescent and adult 5q spinal muscular atrophy (SMA) are lacking. Phosphorylated tau (p-tau) species are elevated in serum in amyotrophic lateral sclerosis (ALS), where they may reflect peripheral nerve...

Whole-body quantitative muscle MRI in myotonic dystrophy type 2: a sensitive tool for pattern recognition, disease stratification and objective assessment of clinical severity

Background Myotonic dystrophy type 2 (DM2) is a frequent yet underdiagnosed muscle disorder. Although muscle MRI is increasingly used in neuromuscular disorders, there is an overt lack of evidence regarding its role in DM2. This study aimed to characterise whole-body muscle invol...