Irini Manoli
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Mitochondrial Function and Pathology, Porphyrin Metabolism and Disorders, RNA modifications and cancer
Most-Cited Works
- → Mitochondria as key components of the stress response(2007)372 cited
- → Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine(2007)199 cited
- → Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity(2009)168 cited
- → Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism(2016)154 cited
- → An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1(2013)130 cited
- → Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia(2013)117 cited
- → A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome(2017)106 cited
- → Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria(2011)105 cited
- → Disorders of branched chain amino acid metabolism(2016)102 cited
- → Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome(2002)97 cited