Lista de obras - I Manoli - Dominio Público Uruguay

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

artículo científico publicado en 2015

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Chronic kidney disease in propionic acidemia

artículo científico publicado en 2019

Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

scientific article published on 06 August 2016

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

artículo científico publicado en 2015

Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics.

artículo científico publicado en 2006

Disorders of branched chain amino acid metabolism.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

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

artículo científico publicado en 2009

Hermansky-Pudlak syndrome in two African-American brothers

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

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.

artículo científico publicado en 2014

Medical genetics and genomic medicine in Greece: achievements and challenges.

artículo científico publicado en 2015

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

artículo científico publicado en 2015

Modulatory effects of L-carnitine on glucocorticoid receptor activity.

artículo científico publicado en 2004

Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells.

artículo científico publicado en 2005

Neurocognitive phenotype of isolated methylmalonic acidemia

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

scientific article published on 14 August 2019

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

artículo científico publicado en 2006

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

artículo científico publicado en 2016

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

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

artículo científico

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

artículo científico publicado en 2017

Renal growth in isolated methylmalonic acidemia

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 2013

The Gne M712T mouse as a model for human glomerulopathy

artículo científico publicado en 2012

Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression.

artículo científico publicado en 2007

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

artículo científico publicado en 2013

Lista de obras de I Manoli

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

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

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

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

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

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

Chronic kidney disease in propionic acidemia

Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

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

Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics.

Disorders of branched chain amino acid metabolism.

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

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

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

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

Hermansky-Pudlak syndrome in two African-American brothers

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

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

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

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

MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.

Medical genetics and genomic medicine in Greece: achievements and challenges.

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

Modulatory effects of L-carnitine on glucocorticoid receptor activity.

Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells.

Neurocognitive phenotype of isolated methylmalonic acidemia

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

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

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

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

Renal growth in isolated methylmalonic acidemia

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

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

The Gne M712T mouse as a model for human glomerulopathy

Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome