Daniele Ghezzi
University of Milan(IT)Istituti Clinici Scientifici Maugeri(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, Genetic Neurodegenerative Diseases, RNA modifications and cancer
Most-Cited Works
- → Genetic diagnosis of Mendelian disorders via RNA sequencing(2017)584 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
- → Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations(2012)216 cited
- → Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians(2005)207 cited
- → Novel (ovario) leukodystrophy related to AARS2 mutations(2014)202 cited