Open access
Sep 2026
Patient-Derived Fibroblasts as a Clinically Relevant Model of Kearns-Sayre Syndrome.
OBJECTIVE Kearns-Sayre syndrome (KSS) is characterized by single large-scale mitochondrial DNA deletions and by severe early-onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking. We aimed to determine whether patient-d...
L. Valls-Roca, A. Vilaseca-Capel, Judith Cantó-Santos et al.
· Annals of Neurology · 0 citations