Andrea Legati
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, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export(2015)309 cited
- → New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies(2016)99 cited
- → Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers(2015)97 cited
- → Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy(2016)78 cited
- → Update and Mutational Analysis ofSLC20A2: A Major Cause of Primary Familial Brain Calcification(2015)75 cited
- → Primary brain calcification: an international study reporting novel variants and associated phenotypes(2018)72 cited
- → A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques(2015)66 cited
- → A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders(2015)66 cited
- → LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance(2016)62 cited
- → Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations(2017)59 cited