Lista de obras - Helene Blasco - Dominio Público Uruguay

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

artículo científico publicado en 2013

1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis

artículo científico publicado en 2010

A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria.

artículo científico publicado en 2016

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

artículo científico publicado en 2015

A decrease in blood cholesterol after gastrostomy could impact survival in ALS.

artículo científico publicado en 2017

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

artículo científico publicado en 2017

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

artículo científico publicado en 2013

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

artículo científico publicado en 2018

APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men

scientific article published on 20 January 2011

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

scientific article published on 17 August 2011

Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Amyotrophic Lateral Sclerosis, 2016: existing therapies and the ongoing search for neuroprotection.

artículo científico publicado en 2016

An UPLC-MSMS method to measure plasma homocysteine concentration.

artículo científico publicado en 2017

Analytical methodology for metabolomics study of adherent mammalian cells using NMR, GC-MS and LC-HRMS.

artículo científico publicado en 2015

Assessing the metabolic effects of calcineurin inhibitors in renal transplant recipients by urine metabolic profiling

artículo científico publicado en 2014

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Biological follow-up in amyotrophic lateral sclerosis: decrease in creatinine levels and increase in ferritin levels predict poor prognosis.

artículo científico publicado en 2015

Biomarkers in amyotrophic lateral sclerosis: combining metabolomic and clinical parameters to define disease progression.

artículo científico publicado en 2015

C-reactive protein: A promising biomarker in ALS?

artículo científico publicado en 2017

Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.

artículo científico publicado en 2018

Chronic demyelinating polyneuropathy and B6 hypervitaminosis

artículo científico publicado en 2010

Combined 1H-NMR and 1H-13C HSQC-NMR to improve urinary screening in autism spectrum disorders

artículo científico publicado en 2014

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

artículo científico publicado en 2016

Comparative analysis of targeted metabolomics: dominance-based rough set approach versus orthogonal partial least square-discriminant analysis

artículo científico publicado en 2014

Correction: 1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2010

Correction: Elucidating time-dependent changes in the urinary metabolome of renal transplant patients by a combined 1H NMR and GC-MS approach.

artículo científico publicado en 2017

Cost-effectiveness of UGT1A1*28 genotyping in preventing severe neutropenia following FOLFIRI therapy in colorectal cancer.

artículo científico publicado en 2010

Could a citrus keep the haematologist away?

artículo científico publicado en 2014

Decisional early interim (18)F-fluoro-2-deoxy-D-glucose positron emission tomography after two cycles of chemotherapy in de novo Hodgkin lymphoma

artículo científico publicado en 2014

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

artículo científico publicado en 2015

Effect of familial clustering in the genetic screening of 235 French ALS families

artículo científico publicado en 2021

Endogenous metabolites that are substrates of organic anion transporter's (OATs) predict methotrexate clearance.

artículo científico publicado en 2016

Erratum to "Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management" [Clin. Biochem. 49 (2016) 1047-1050]

scientific article published on 02 May 2017

Evaluation of a peptide ELISA for the detection of rituximab in serum.

artículo científico publicado en 2007

Expanding the Baveno VI criteria for the screening of varices in patients with compensated advanced chronic liver disease.

artículo científico publicado en 2017

Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy

scientific article published on 25 November 2009

Further development of biomarkers in amyotrophic lateral sclerosis.

artículo científico publicado en 2016

GC-MS-based urine metabolic profiling of autism spectrum disorders.

artículo científico publicado en 2013

Genetics of amyotrophic lateral sclerosis

article

How Can a Ketogenic Diet Improve Motor Function?

artículo científico publicado en 2018

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.

artículo científico publicado en 2017

Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population

artículo científico publicado en 2018

In ALS, a mutation could be worth two steps

artículo científico publicado en 2018

Inborn Errors of Metabolism in Elderly Adults.

artículo científico publicado en 2016

Influence of methotrexate exposure on outcome in patients treated with MBVP chemotherapy for primary central nervous system lymphoma

artículo científico publicado en 2010

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

artículo científico publicado en 2015

Iron metabolism disturbance in a French cohort of ALS patients

artículo científico publicado en 2014

Is NMR metabolic profiling of spent embryo culture media useful to assist in vitro human embryo selection?

artículo científico publicado en 2012

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

artículo científico publicado en 2017

Liver involvement in urea cycle disorders: a review of the literature.

artículo científico publicado en 2017

Low IDL-B and high LDL-1 subfraction levels in serum of ALS patients

artículo científico publicado en 2017

Low specificity of urinary 3-methoxytyramine in screening of dopamine-secreting pheochromocytomas and paragangliomas

scientific article published on 18 May 2016

Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS.

artículo científico publicado en 2010

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology

artículo científico publicado en 2015

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

artículo científico publicado en 2017

Metabolomics in amyotrophic lateral sclerosis: how far can it take us?

artículo científico publicado en 2016

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

artículo científico publicado en 2017

NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity.

artículo científico publicado en 2016

New sampling strategy using a Bayesian approach to assess iohexol clearance in kidney transplant recipients.

artículo científico publicado en 2012

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Nutritional assessment of amyotrophic lateral sclerosis in routine practice: value of weighing and bioelectrical impedance analysis.

artículo científico publicado en 2015

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

artículo científico publicado en 2016

Panel of Oxidative Stress and Inflammatory Biomarkers in ALS: A Pilot Study.

artículo científico publicado en 2016

Pharmacokinetics of rituximab and its clinical use: thought for the best use?

artículo científico publicado en 2007

Pharmacokinetics of rituximab associated with CHOP chemotherapy in B-cell non-Hodgkin lymphoma.

artículo científico publicado en 2009

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

artículo científico publicado en 2012

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

artículo científico publicado en 2018

Population pharmacokinetics of rituximab with or without plasmapheresis in kidney patients with antibody-mediated disease.

artículo científico publicado en 2013

Predictions of metabolic drug-drug interactions using physiologically based modelling: Two cytochrome P450 3A4 substrates coadministered with ketoconazole or verapamil.

artículo científico publicado en 2010

Predictive value of motor evoked potentials in clinically isolated syndrome

artículo científico publicado en 2011

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

artículo científico publicado en 2018

Quality of life of patients treated for giant cell arteritis: a case-control study

artículo científico publicado en 2017

Rhegmatogenous retinal detachment treatment guidelines.

artículo científico

Routine determination of GFR in renal transplant recipients by HPLC quantification of plasma iohexol concentrations and comparison with estimated GFR

artículo científico publicado en 2012

SOD1 mutation can mask C9orf72 abnormal expansion

artículo científico publicado en 2017

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Specific Metabolome Profile of Exhaled Breath Condensate in Patients with Shock and Respiratory Failure: A Pilot Study.

artículo científico publicado en 2016

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2012

The Metabolic Disturbances of Motoneurons Exposed to Glutamate.

artículo científico publicado en 2018

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

article

The combination of four analytical methods to explore skeletal muscle metabolomics: Better coverage of metabolic pathways or a marketing argument?

artículo científico publicado en 2017

The glutamate hypothesis in ALS: pathophysiology and drug development.

artículo científico

Ultra-filtration of human serum for improved quantitative analysis of low molecular weight biomarkers using ATR-IR spectroscopy

artículo científico publicado en 2017

Untargeted 1H-NMR metabolomics in CSF: toward a diagnostic biomarker for motor neuron disease

artículo científico publicado en 2014

Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management.

artículo científico publicado en 2016

Validation of metabolomics analysis of human perilymph fluid using liquid chromatography-mass spectroscopy

artículo científico publicado en 2018

Vitamin D is Not a Protective Factor in ALS.

artículo científico publicado en 2015

Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling.

artículo científico publicado en 2017

Workflow methodology for rat brain metabolome exploration using NMR, LC-MS and GC-MS analytical platforms

artículo científico publicado en 2017

[Behavior and psychiatric symptoms: intoxication diseases in inborn errors of metabolism]

artículo científico publicado en 2010

[Cervical ripening with balloon catheter for scared uterus: a three-year retrospective study]

artículo científico publicado en 2013

[Diagnosis and treatment of urea cycle disorders in adult patients]

scientific article published on 28 March 2016

[Genetics of amyotrophic lateral sclerosis]

artículo científico publicado en 2014

[Investigation of hyperhomocysteinemia].

artículo científico publicado en 2013

[The need for a better definition of therapeutic indications of carboxypeptidase in delayed elimination of methotrexate]

artículo científico publicado en 2008

[What are the applications of biomarkers in ALS today?]

artículo científico publicado en 2014

Lista de obras de Helene Blasco

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis

A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria.

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

A decrease in blood cholesterol after gastrostomy could impact survival in ALS.

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis, 2016: existing therapies and the ongoing search for neuroprotection.

An UPLC-MSMS method to measure plasma homocysteine concentration.

Analytical methodology for metabolomics study of adherent mammalian cells using NMR, GC-MS and LC-HRMS.

Assessing the metabolic effects of calcineurin inhibitors in renal transplant recipients by urine metabolic profiling

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

Biological follow-up in amyotrophic lateral sclerosis: decrease in creatinine levels and increase in ferritin levels predict poor prognosis.

Biomarkers in amyotrophic lateral sclerosis: combining metabolomic and clinical parameters to define disease progression.

C-reactive protein: A promising biomarker in ALS?

Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.

Chronic demyelinating polyneuropathy and B6 hypervitaminosis

Combined 1H-NMR and 1H-13C HSQC-NMR to improve urinary screening in autism spectrum disorders

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

Comparative analysis of targeted metabolomics: dominance-based rough set approach versus orthogonal partial least square-discriminant analysis

Correction: 1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis.

Correction: Elucidating time-dependent changes in the urinary metabolome of renal transplant patients by a combined 1H NMR and GC-MS approach.

Cost-effectiveness of UGT1A1*28 genotyping in preventing severe neutropenia following FOLFIRI therapy in colorectal cancer.

Could a citrus keep the haematologist away?

Decisional early interim (18)F-fluoro-2-deoxy-D-glucose positron emission tomography after two cycles of chemotherapy in de novo Hodgkin lymphoma

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

Effect of familial clustering in the genetic screening of 235 French ALS families

Endogenous metabolites that are substrates of organic anion transporter's (OATs) predict methotrexate clearance.

Erratum to "Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management" [Clin. Biochem. 49 (2016) 1047-1050]

Evaluation of a peptide ELISA for the detection of rituximab in serum.

Expanding the Baveno VI criteria for the screening of varices in patients with compensated advanced chronic liver disease.

Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy

Further development of biomarkers in amyotrophic lateral sclerosis.

GC-MS-based urine metabolic profiling of autism spectrum disorders.

Genetics of amyotrophic lateral sclerosis

How Can a Ketogenic Diet Improve Motor Function?

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.

Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population

In ALS, a mutation could be worth two steps

Inborn Errors of Metabolism in Elderly Adults.

Influence of methotrexate exposure on outcome in patients treated with MBVP chemotherapy for primary central nervous system lymphoma

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

Iron metabolism disturbance in a French cohort of ALS patients

Is NMR metabolic profiling of spent embryo culture media useful to assist in vitro human embryo selection?

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

Liver involvement in urea cycle disorders: a review of the literature.

Low IDL-B and high LDL-1 subfraction levels in serum of ALS patients

Low specificity of urinary 3-methoxytyramine in screening of dopamine-secreting pheochromocytomas and paragangliomas

Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS.

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

Metabolomics in amyotrophic lateral sclerosis: how far can it take us?

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity.

New sampling strategy using a Bayesian approach to assess iohexol clearance in kidney transplant recipients.

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

Nutritional assessment of amyotrophic lateral sclerosis in routine practice: value of weighing and bioelectrical impedance analysis.

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

Panel of Oxidative Stress and Inflammatory Biomarkers in ALS: A Pilot Study.

Pharmacokinetics of rituximab and its clinical use: thought for the best use?

Pharmacokinetics of rituximab associated with CHOP chemotherapy in B-cell non-Hodgkin lymphoma.

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Population pharmacokinetics of rituximab with or without plasmapheresis in kidney patients with antibody-mediated disease.

Predictions of metabolic drug-drug interactions using physiologically based modelling: Two cytochrome P450 3A4 substrates coadministered with ketoconazole or verapamil.

Predictive value of motor evoked potentials in clinically isolated syndrome

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

Quality of life of patients treated for giant cell arteritis: a case-control study

Rhegmatogenous retinal detachment treatment guidelines.

Routine determination of GFR in renal transplant recipients by HPLC quantification of plasma iohexol concentrations and comparison with estimated GFR

SOD1 mutation can mask C9orf72 abnormal expansion

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

Specific Metabolome Profile of Exhaled Breath Condensate in Patients with Shock and Respiratory Failure: A Pilot Study.

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

The Metabolic Disturbances of Motoneurons Exposed to Glutamate.