Browsing by Subject Kearns–Sayre syndrome

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  • Authors: Montanara, Paolo La;  Advisor: -;  Participants: Albergo, Annamaria; Castellana, Roberto; Fiorentini, Concetta; Romano, Caterina; Rossiello, Annalisa; Steinruecke, Moritz; Vella, Giuseppe (2022)

  • Mitochondrial dysfunction is emerging as a common contributor to neurodegeneration and spongiotic brain diseases and presents with a wide range of signs and severity (Ignatenko et al. 2020). The relationships between genotype and phenotype, as well as the exceptional variability of non-overlapping diseases, remain poorly understood