Micol Falabella

Haploinsufficiency of progranulin causes mitochondrial dysfunction

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

Advances in methods to analyse cardiolipin and their clinical applications

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges

Mutant TRIAP1 causes impaired mitochondrial bioenergetics and myopathy

Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases