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List of works by Irini Manoli

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Glucocorticoid receptor (GR) beta has intrinsic, GRalpha-independent transcriptional activity

scientific article
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

scientific article
Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5

scientific article
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

scientific article
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

scientific article
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

scientific article published on 29 January 2007
Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

scientific article published on 06 August 2016
Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells.

scientific article
Rho family Guanine nucleotide exchange factor Brx couples extracellular signals to the glucocorticoid signaling system

scientific journal article
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

scientific article
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

scientific article published on 13 August 2015
Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression.

scientific article published on March 2007
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

scientific article published on 13 August 2015
Disorders of branched chain amino acid metabolism

scientific article
Renal growth in isolated methylmalonic acidemia

scientific article
Neurocognitive phenotype of isolated methylmalonic acidemia

scientific article
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia

scientific article published on 20 January 2016
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.

scientific article
Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?

scientific article published on 14 April 2015
The Gne M712T mouse as a model for human glomerulopathy

scientific article
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

scientific article published on 24 July 2008
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

scientific article published on 09 June 2006
Update on transcobalamin deficiency: clinical presentation, treatment and outcome

scientific article published on 05 December 2013
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

scientific article published on 26 January 2016
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

scientific article
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

scientific article published on 10 May 2015
Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics

scientific article published on 14 March 2006
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

scientific article
Modulatory effects of L-carnitine on glucocorticoid receptor activity.

scientific article
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients

scientific article published on 19 May 2015
Hermansky-Pudlak syndrome in two African-American brothers

article
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias

scientific article published on 14 October 2017
Isolated Methylmalonic Acidemia

scientific article published on September 8, 2022
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

scientific article published on 14 August 2019
Medical genetics and genomic medicine in Greece: achievements and challenges.

scientific article
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites

scientific article published on 07 May 2019
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

Chronic kidney disease in propionic acidemia

scientific article published on 28 June 2019
Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

scientific article published on 27 September 2017

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