Claudia Soler‐Alfonso

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

This paper identifies a cellular mechanism involving giant ankyrin-B that leads to stochastic axon projections and contributes to neurodiversity and ASD.