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Irini Manoli, MD, PhD
Irini Manoli, MD, PhD
Clinician Associate Investigator, NHGRI, NIH
Verified email at mail.nih.gov
Title
Cited by
Cited by
Year
Encyclopedia of dietary supplements
PM Coates, JM Betz, MR Blackman, GM Cragg, M Levine, J Moss, ...
CRC press, 2010
3922010
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
3752007
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
2632007
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
2042009
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
1432013
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
1412016
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
1252013
Isolated methylmalonic acidemia
I Manoli, JL Sloan, CP Venditti
1242016
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
1222002
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
1192011
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
1062009
Disorders of branched chain amino acid metabolism
I Manoli, CP Venditti
Translational science of rare diseases 1 (2), 91-110, 2016
1032016
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
882016
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
852005
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
842014
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
822017
Methylmalonic acidemia
I Manoli, CP Venditti
GeneReviews®, 2005
792005
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
762011
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
702007
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
672012
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Articles 1–20