Suivre
Irini Manoli, MD, PhD
Irini Manoli, MD, PhD
Clinician Associate Investigator, NHGRI, NIH
Adresse e-mail validée de mail.nih.gov
Titre
Citée par
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Année
Encyclopedia of dietary supplements
PM Coates, JM Betz, MR Blackman, GM Cragg, M Levine, J Moss, ...
CRC press, 2010
3932010
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
3772007
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
1422016
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
1262013
Isolated methylmalonic acidemia
I Manoli, JL Sloan, CP Venditti
1252016
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
772011
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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