Theo dõi
Irini Manoli, MD, PhD
Irini Manoli, MD, PhD
Clinician Associate Investigator, NHGRI, NIH
Email được xác minh tại mail.nih.gov
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
4082007
Encyclopedia of dietary supplements
PM Coates, JM Betz, MR Blackman, GM Cragg, M Levine, J Moss, ...
CRC press, 2010
3602010
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
2672007
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
2172009
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
1572016
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
1502013
Isolated methylmalonic acidemia
I Manoli, JL Sloan, CP Venditti
1462016
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
1362013
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
1302002
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
1212011
Disorders of branched chain amino acid metabolism
I Manoli, CP Venditti
Translational science of rare diseases 1 (2), 91-110, 2016
1142016
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
1132009
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
952017
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
942016
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
942014
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
912005
Methylmalonic acidemia
I Manoli, CP Venditti
GeneReviews®, 2005
862005
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations 1 2 3 4
NS Hauser, I Manoli, JC Graf, J Sloan, CP Venditti
The American journal of clinical nutrition 93 (1), 47-56, 2011
842011
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
752012
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
712007
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