Mitochondria as key components of the stress response I Manoli, S Alesci, MR Blackman, YA Su, OM Rennert, GP Chrousos Trends in Endocrinology & Metabolism 18 (5), 190-198, 2007 | 406 | 2007 |
Encyclopedia of dietary supplements PM Coates, JM Betz, MR Blackman, GM Cragg, M Levine, J Moss, ... CRC press, 2010 | 360 | 2010 |
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine B Galeano, R Klootwijk, I Manoli, MS Sun, C Ciccone, D Darvish, ... The Journal of clinical investigation 117 (6), 1585-1594, 2007 | 267 | 2007 |
Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity T Kino, I Manoli, S Kelkar, Y Wang, YA Su, GP Chrousos Biochemical and biophysical research communications 381 (4), 671-675, 2009 | 216 | 2009 |
Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism C Lerin, AB Goldfine, T Boes, M Liu, S Kasif, JM Dreyfuss, ... Molecular metabolism 5 (10), 926-936, 2016 | 155 | 2016 |
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 HC Yu, JL Sloan, G Scharer, A Brebner, AM Quintana, NP Achilly, I Manoli, ... The American Journal of Human Genetics 93 (3), 506-514, 2013 | 150 | 2013 |
Isolated methylmalonic acidemia I Manoli, JL Sloan, CP Venditti | 146 | 2016 |
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia I Manoli, JR Sysol, L Li, P Houillier, C Garone, C Wang, PM Zerfas, ... Proceedings of the National Academy of Sciences 110 (33), 13552-13557, 2013 | 136 | 2013 |
Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome I Manoli, C Kanaka‐Gantenbein, A Voutetakis, M Maniati‐Christidi, ... Clinical endocrinology 57 (5), 669-676, 2002 | 130 | 2002 |
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria JL Sloan, JJ Johnston, I Manoli, RJ Chandler, C Krause, ... Nature genetics 43 (9), 883-886, 2011 | 121 | 2011 |
Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5 T Kino, H Takatori, I Manoli, Y Wang, A Tiulpakov, MR Blackman, YA Su, ... Science signaling 2 (57), ra5-ra5, 2009 | 113 | 2009 |
Disorders of branched chain amino acid metabolism I Manoli, CP Venditti Translational science of rare diseases 1 (2), 91-110, 2016 | 112 | 2016 |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ... Nature communications 8 (1), 16077, 2017 | 95 | 2017 |
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias I Manoli, JG Myles, JL Sloan, OA Shchelochkov, CP Venditti Genetics in Medicine 18 (4), 386-395, 2016 | 94 | 2016 |
Update on transcobalamin deficiency: clinical presentation, treatment and outcome YJ Trakadis, A Alfares, OA Bodamer, M Buyukavci, J Christodoulou, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2014 | 94 | 2014 |
Monoamine oxidase‐A is a major target gene for glucocorticoids in human skeletal muscle cells I Manoli, H Le, S Alesci, KK McFann, YA Su, T Kino, GP Chrousos, ... The FASEB journal 19 (10), 1359-1361, 2005 | 91 | 2005 |
Methylmalonic acidemia I Manoli, CP Venditti GeneReviews®, 2005 | 86 | 2005 |
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations NS Hauser, I Manoli, JC Graf, J Sloan, CP Venditti The American journal of clinical nutrition 93 (1), 47-56, 2011 | 84 | 2011 |
Neurocognitive phenotype of isolated methylmalonic acidemia CJ O’Shea, JL Sloan, EA Wiggs, M Pao, A Gropman, EH Baker, I Manoli, ... Pediatrics 129 (6), e1541-e1551, 2012 | 74 | 2012 |
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study S Sparks, G Rakocevic, G Joe, I Manoli, J Shrader, M Harris-Love, ... BMC neurology 7, 1-13, 2007 | 70 | 2007 |