Federica Invernizzi
Vita-Salute San Raffaele University(IT)IRCCS Ospedale San Raffaele(IT)Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, RNA modifications and cancer, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Clinical and molecular findings in children with complex I deficiency(2004)260 cited
- → Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency(2010)249 cited
- → SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy(2009)244 cited
- → Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor(2010)226 cited
- → Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation(2013)200 cited
- → Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis(2012)193 cited