Ivano Di Meo
Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Neurological diseases and metabolism, Porphyrin Metabolism and Disorders, Folate and B Vitamins Research
Most-Cited Works
- → Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy(2009)401 cited
- → Transcription Factor EB Controls Metabolic Flexibility during Exercise(2016)323 cited
- → Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways(2018)100 cited
- → Chronic Exposure to Sulfide Causes Accelerated Degradation of Cytochrome c Oxidase in Ethylmalonic Encephalopathy(2010)94 cited
- → SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder(2019)91 cited
- → Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy(2012)85 cited
- → Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway(2016)74 cited
- → Classification and molecular pathogenesis of NBIA syndromes(2018)70 cited
- → Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease(2016)69 cited
- → Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy(2008)66 cited