Federica Invernizzi

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 248 citations

Mendelian Disorder, Identifies Acad9 Mutations, Genetic Disorder +8

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, P Goffrini, Graziella Uziel et al. · Nature Genetics · 2009 · 244 citations

Sdh-defective Infantile Leukoencephalopathy, Disease Mechanism, Genetic Disorder +10

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi et al. · The American Journal of Human Genetics · 2010 · 225 citations · Full text

Mitophagy, Mitochondrial Function, Genetics +9

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 200 citations · Full text