Lista de obras - Mariarosa A.B. Melone - Dominio Público Uruguay

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

artículo científico publicado en 2008

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

scientific article published on 12 November 2015

A rapid, safe, and quantitative in vitro assay for measurement of uracil-DNA glycosylase activity

artículo científico publicado en 2019

A synthetic amino acid substitution of Tyr10 in Aβ peptide sequence yields a dominant negative variant in amyloidogenesis.

artículo científico publicado en 2012

Acetylcholinesterase in neuroblastoma and neuroblastoma x glioma hybrid cells: cellular localization and molecular forms.

artículo científico publicado en 1987

Adult-onset brain tumors and neurodegeneration: Are polyphenols protective?

artículo científico publicado en 2017

Alterations in the carnitine cycle in a mouse model of Rett syndrome.

artículo científico publicado en 2017

An unusual case of poisoning due to dithiocarbamates with serious neurological symptoms. Analogy with poisoning due to organo-phosphate substances

artículo científico publicado el 1 de enero de 1979

Antisense oligonucleotides and myotonin gene expression in C2 mouse cells.

artículo científico publicado en 1998

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

artículo científico publicado en 2005

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

artículo científico publicado en 2018

Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds

artículo científico publicado en 2020

Brg1 chromatin remodeling factor is involved in cell growth arrest, apoptosis and senescence of rat mesenchymal stem cells.

artículo científico publicado en 2007

Changes in autophagy, proteasome activity and metabolism to determine a specific signature for acute and chronic senescent mesenchymal stromal cells.

artículo científico publicado en 2015

Changes in the expression of extracellular regulated kinase (ERK 1/2) in the R6/2 mouse model of Huntington's disease after phosphodiesterase IV inhibition.

artículo científico publicado en 2012

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.

artículo científico publicado en 2003

Circulating factors present in the sera of naturally skinny people may influence cell commitment and adipocyte differentiation of mesenchymal stromal cells

artículo científico publicado en 2019

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

artículo científico publicado en 2019

Controlled delivery of the heparan sulfate/FGF-2 complex by a polyelectrolyte scaffold promotes maximal hMSC proliferation and differentiation.

artículo científico publicado en 2010

Correction: Systemic Delivery of Recombinant Brain Derived Neurotrophic Factor (BDNF) in the R6/2 Mouse Model of Huntington's Disease.

artículo científico publicado en 2016

Defective growth in vitro of Duchenne Muscular Dystrophy myoblasts: the molecular and biochemical basis

scientific article published on 01 November 1999

Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.

artículo científico publicado en 2005

Differentiation and apoptosis of neuroblastoma cells: role of N-myc gene product

scientific article published on 01 April 1999

Diffuse glioblastoma resembling acute hemorrhagic leukoencephalitis.

artículo científico publicado en 2017

Dopamine exacerbates mutant Huntingtin toxicity via oxidative-mediated inhibition of autophagy in SH-SY5Y neuroblastoma cells: Beneficial effects of anti-oxidant therapeutics

artículo científico publicado en 2016

EGF-responsive rat neural stem cells: molecular follow-up of neuron and astrocyte differentiation in vitro.

artículo científico publicado en 2003

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

scientific article published on 27 December 2018

Efficient cultivation of neural stem cells with controlled delivery of FGF-2.

artículo científico publicado en 2012

Establishment of neuromuscular contacts in cultures of rat embryonic cells: effect of tetrodotoxin on maturation of muscle fibers and on formation and maintenance of acetylcholinesterase and acetylcholine receptor clusters.

artículo científico publicado en 1982

First study on the peptidergic innervation of the brain superior sagittal sinus in humans.

artículo científico publicado en 2017

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection.

artículo científico publicado en 2014

Functional and structural recovery of myotubes from mice with muscular dysgenesis after co-culture with normal, non-myoblastic cells

artículo científico publicado en 1995

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

artículo científico publicado en 2022

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.

artículo científico publicado en 2014

High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism

artículo científico publicado en 2014

Huntingtin polyQ Mutation Impairs the 17β-Estradiol/Neuroglobin Pathway Devoted to Neuron Survival.

artículo científico publicado en 2016

Huntingtin protein: A new option for fixing the Huntington's disease countdown clock.

artículo científico publicado en 2018

Huntington's disease: new frontiers for molecular and cell therapy.

artículo científico publicado en 2005

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy

artículo científico publicado en 2005

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

artículo científico publicado en 2017

Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.

artículo científico publicado en 2017

Increased expression of IGF-binding protein-5 in Duchenne muscular dystrophy (DMD) fibroblasts correlates with the fibroblast-induced downregulation of DMD myoblast growth: an in vitro analysis

artículo científico publicado en 2000

L-dopa-resistant Parkinson's disease with cerebral atrophy: striato-nigral degeneration?

artículo científico publicado el 1 de enero de 1981

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

artículo científico publicado en 2018

Localization of neuroglobin in the brain of R6/2 mouse model of Huntington's disease

artículo científico publicado en 2017

MRI "fogging" in cerebellar ischaemia: case report ⬇️

artículo científico publicado el 1 de noviembre de 1997

Magnetic Resonance Imaging correlates of benign and malignant alterations of the spinal bone marrow.

artículo científico publicado en 2018

Meldonium improves Huntington's disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression

artículo científico publicado en 2018

Mesenchymal stromal cells from amniotic fluid are less prone to senescence compared to those obtained from bone marrow: An in vitro study

artículo científico publicado en 2018

Metabolic syndrome, Mediterranean diet, and polyphenols: Evidence and perspectives

article

Migraine as possible red flag of PFO presence in suspected demyelinating disease

artículo científico publicado en 2018

Modulation of cytokine production in activated human monocytes by somatostatin

scientific article published on 01 October 1996

Modulation of in vitro myogenesis induced by different polymer substrates

artículo científico publicado en 1999

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

artículo científico publicado en 2017

Mutant huntingtin regulates EGF receptor fate in non-neuronal cells lacking wild-type protein.

artículo científico publicado en 2012

Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process.

artículo científico publicado en 2018

Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome

artículo científico publicado en 2018

Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up.

artículo científico publicado en 2007

Neurofibromatous neuropathy: An ultrastructural study

artículo científico publicado en 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy

scientific article published on 01 April 1987

Phosphodiesterase 10A (PDE10A) localization in the R6/2 mouse model of Huntington's disease.

artículo científico publicado en 2012

RAGE recycles at the plasma membrane in S100B secretory vesicles and promotes Schwann cells morphological changes

artículo científico publicado en 2008

RAGE-TXNIP axis is required for S100B-promoted Schwann cell migration, fibronectin expression and cytokine secretion

scientific journal article

RB and RB2/P130 genes cooperate with extrinsic signals to promote differentiation of rat neural stem cells.

artículo científico publicado en 2007

RB2/p130 ectopic gene expression in neuroblastoma stem cells: evidence of cell-fate restriction and induction of differentiation

artículo científico publicado en 2001

Rasagiline for sleep disorders in patients with Parkinson's disease: a prospective observational study

artículo científico publicado en 2016

Regenerated EDL muscle of rats requires innervation to maintain AChE molecular forms

artículo científico publicado en 1990

Resveratrol protects neuronal-like cells expressing mutant Huntingtin from dopamine toxicity by rescuing ATG4-mediated autophagosome formation.

artículo científico publicado en 2017

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

artículo científico publicado en 2004

Role of RB and RB2/P130 genes in marrow stromal stem cells plasticity.

artículo científico publicado en 2004

Ruta graveolens L. induces death of glioblastoma cells and neural progenitors, but not of neurons, via ERK 1/2 and AKT activation

artículo científico publicado en 2015

Scanning electron microscopic study of nerve-muscle junctions in embryonic rat cell cultures

scientific article published on 01 April 1984

Senescence Phenomena and Metabolic Alteration in Mesenchymal Stromal Cells from a Mouse Model of Rett Syndrome

artículo científico publicado en 2019

Silencing of RB1 and RB2/P130 during adipogenesis of bone marrow stromal cells results in dysregulated differentiation

artículo científico publicado en 2013

Stress and stem cells: adult Muse cells tolerate extensive genotoxic stimuli better than mesenchymal stromal cells.

artículo científico publicado en 2018

Successful long-term therapy with flecainide in a family with paramyotonia congenita.

artículo científico publicado en 2018

Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients.

artículo científico publicado en 2017

Targeted therapy of human glioblastoma via delivery of a toxin through a peptide directed to cell surface nucleolin.

artículo científico publicado en 2017

The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases

artículo científico publicado en 2019

The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity

artículo científico publicado en 2020

The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.

artículo científico publicado en 2016

The carnitine system and cancer metabolic plasticity.

artículo científico publicado en 2018

The differential effects of poly(2-hydroxyethyl methacrylate) and poly(2-hydroxyethyl methacrylate)/poly(caprolactone) polymers on cell proliferation and collagen synthesis by human lung fibroblasts.

artículo científico publicado en 1997

The role of enhancer of zeste homolog 2: From viral epigenetics to the carcinogenesis of hepatocellular carcinoma

artículo científico publicado en 2018

Tissue transglutaminase-catalyzed formation of high-molecular-weight aggregates in vitro is favored with long polyglutamine domains: a possible mechanism contributing to CAG-triplet diseases.

artículo científico publicado en 1998

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

artículo científico publicado en 2020

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

artículo científico publicado en 2014

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

artículo científico publicado en 2017

Verapamil Inhibits Ser202/Thr205 Phosphorylation of Tau by Blocking TXNIP/ROS/p38 MAPK Pathway.

artículo científico publicado en 2018

[L-dopa-resistant parkinsonism with cerebral atrophy: striato-nigral degeneration? 2 cases]

artículo científico publicado en 1981

[Phosphorus NMR spectroscopy. Its value in the diagnosis of metabolic myopathies. A case of Mac Ardle's disease]

artículo científico publicado en 1990

[Preliminary results of isolation and identification of rat sarcolemma and the effect of denervation on membrane-bound neuraminidase activity]

artículo científico publicado en 1979

[Some aspects of hysteria: a clinical study]

scientific article published on 01 January 1979

pRb2/p130 gene overexpression induces astrocyte differentiation.

artículo científico publicado en 2001

Lista de obras de Mariarosa A.B. Melone

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

A rapid, safe, and quantitative in vitro assay for measurement of uracil-DNA glycosylase activity

A synthetic amino acid substitution of Tyr10 in Aβ peptide sequence yields a dominant negative variant in amyloidogenesis.

Acetylcholinesterase in neuroblastoma and neuroblastoma x glioma hybrid cells: cellular localization and molecular forms.

Adult-onset brain tumors and neurodegeneration: Are polyphenols protective?

Alterations in the carnitine cycle in a mouse model of Rett syndrome.

An unusual case of poisoning due to dithiocarbamates with serious neurological symptoms. Analogy with poisoning due to organo-phosphate substances

Antisense oligonucleotides and myotonin gene expression in C2 mouse cells.

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds

Brg1 chromatin remodeling factor is involved in cell growth arrest, apoptosis and senescence of rat mesenchymal stem cells.

Changes in autophagy, proteasome activity and metabolism to determine a specific signature for acute and chronic senescent mesenchymal stromal cells.

Changes in the expression of extracellular regulated kinase (ERK 1/2) in the R6/2 mouse model of Huntington's disease after phosphodiesterase IV inhibition.

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.

Circulating factors present in the sera of naturally skinny people may influence cell commitment and adipocyte differentiation of mesenchymal stromal cells

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Controlled delivery of the heparan sulfate/FGF-2 complex by a polyelectrolyte scaffold promotes maximal hMSC proliferation and differentiation.

Correction: Systemic Delivery of Recombinant Brain Derived Neurotrophic Factor (BDNF) in the R6/2 Mouse Model of Huntington's Disease.

Defective growth in vitro of Duchenne Muscular Dystrophy myoblasts: the molecular and biochemical basis

Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.

Differentiation and apoptosis of neuroblastoma cells: role of N-myc gene product

Diffuse glioblastoma resembling acute hemorrhagic leukoencephalitis.

Dopamine exacerbates mutant Huntingtin toxicity via oxidative-mediated inhibition of autophagy in SH-SY5Y neuroblastoma cells: Beneficial effects of anti-oxidant therapeutics

EGF-responsive rat neural stem cells: molecular follow-up of neuron and astrocyte differentiation in vitro.

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Efficient cultivation of neural stem cells with controlled delivery of FGF-2.

Establishment of neuromuscular contacts in cultures of rat embryonic cells: effect of tetrodotoxin on maturation of muscle fibers and on formation and maintenance of acetylcholinesterase and acetylcholine receptor clusters.

First study on the peptidergic innervation of the brain superior sagittal sinus in humans.

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection.

Functional and structural recovery of myotubes from mice with muscular dysgenesis after co-culture with normal, non-myoblastic cells

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.

High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism

Huntingtin polyQ Mutation Impairs the 17β-Estradiol/Neuroglobin Pathway Devoted to Neuron Survival.

Huntingtin protein: A new option for fixing the Huntington's disease countdown clock.

Huntington's disease: new frontiers for molecular and cell therapy.

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.

Increased expression of IGF-binding protein-5 in Duchenne muscular dystrophy (DMD) fibroblasts correlates with the fibroblast-induced downregulation of DMD myoblast growth: an in vitro analysis

L-dopa-resistant Parkinson's disease with cerebral atrophy: striato-nigral degeneration?

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Localization of neuroglobin in the brain of R6/2 mouse model of Huntington's disease

MRI "fogging" in cerebellar ischaemia: case report ⬇️

Magnetic Resonance Imaging correlates of benign and malignant alterations of the spinal bone marrow.

Meldonium improves Huntington's disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression

Mesenchymal stromal cells from amniotic fluid are less prone to senescence compared to those obtained from bone marrow: An in vitro study

Metabolic syndrome, Mediterranean diet, and polyphenols: Evidence and perspectives

Migraine as possible red flag of PFO presence in suspected demyelinating disease

Modulation of cytokine production in activated human monocytes by somatostatin

Modulation of in vitro myogenesis induced by different polymer substrates

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Mutant huntingtin regulates EGF receptor fate in non-neuronal cells lacking wild-type protein.

Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process.

Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome

Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up.

Neurofibromatous neuropathy: An ultrastructural study

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy

Phosphodiesterase 10A (PDE10A) localization in the R6/2 mouse model of Huntington's disease.

RAGE recycles at the plasma membrane in S100B secretory vesicles and promotes Schwann cells morphological changes

RAGE-TXNIP axis is required for S100B-promoted Schwann cell migration, fibronectin expression and cytokine secretion

RB and RB2/P130 genes cooperate with extrinsic signals to promote differentiation of rat neural stem cells.

RB2/p130 ectopic gene expression in neuroblastoma stem cells: evidence of cell-fate restriction and induction of differentiation

Rasagiline for sleep disorders in patients with Parkinson's disease: a prospective observational study

Regenerated EDL muscle of rats requires innervation to maintain AChE molecular forms

Resveratrol protects neuronal-like cells expressing mutant Huntingtin from dopamine toxicity by rescuing ATG4-mediated autophagosome formation.

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

Role of RB and RB2/P130 genes in marrow stromal stem cells plasticity.

Ruta graveolens L. induces death of glioblastoma cells and neural progenitors, but not of neurons, via ERK 1/2 and AKT activation

Scanning electron microscopic study of nerve-muscle junctions in embryonic rat cell cultures

Senescence Phenomena and Metabolic Alteration in Mesenchymal Stromal Cells from a Mouse Model of Rett Syndrome

Silencing of RB1 and RB2/P130 during adipogenesis of bone marrow stromal cells results in dysregulated differentiation

Stress and stem cells: adult Muse cells tolerate extensive genotoxic stimuli better than mesenchymal stromal cells.

Successful long-term therapy with flecainide in a family with paramyotonia congenita.

Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients.

Targeted therapy of human glioblastoma via delivery of a toxin through a peptide directed to cell surface nucleolin.