Graziella Uziel
Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, Peroxisome Proliferator-Activated Receptors, RNA regulation and disease
Most-Cited Works
- → Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency(1998)526 cited
- → Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation(2007)450 cited
- → Cytochrome c oxidase deficiency in leigh syndrome(1987)363 cited
- → 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
- → Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey(2002)245 cited
- → SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy