Search filters

List of works by Helene Blasco

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

scientific article published on 9 April 2013

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

scientific article

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

scientific article published on 15 June 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

scientific article published on 17 June 2015

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

scientific article published on 19 April 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.

scientific article published on 5 January 2017

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

scientific article published on 28 May 2013

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

scientific article published in January 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.

scientific article

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

scientific article published on 29 June 2016

An UPLC-MSMS method to measure plasma homocysteine concentration.

scientific article published in June 2017

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

scientific article published on 7 October 2015

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

scientific article published on 01 July 2014

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

scientific article

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

scientific article published on 22 June 2015

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

scientific article published on 28 October 2015

C-reactive protein: A promising biomarker in ALS?

scientific article published on 7 August 2017

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

scientific article published on 10 January 2018

Chronic demyelinating polyneuropathy and B6 hypervitaminosis

scientific article published on 2 June 2010

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

scientific article published in July 2014

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

scientific article published on 21 July 2016

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

scientific article published on 11 December 2014

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

scientific article published on 10 November 2010

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

scientific article published on 19 January 2017

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

scientific article published on January 2010

Could a citrus keep the haematologist away?

scientific article published on 20 March 2014

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

scientific article published on 08 October 2014

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

scientific article published on 14 December 2015

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

scientific article published on 06 January 2021

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

scientific article

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.

scientific article published on 17 July 2007

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

scientific article published on 11 July 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.

scientific article

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

scientific article published on 10 April 2013

Genetics of amyotrophic lateral sclerosis

article

How Can a Ketogenic Diet Improve Motor Function?

scientific article published on 26 January 2018

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

scientific article published on 15 March 2017

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

scientific article published on 29 January 2018

In ALS, a mutation could be worth two steps

scientific article published on 01 December 2018

Inborn Errors of Metabolism in Elderly Adults.

scientific article

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

scientific article

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

scientific article published on 26 November 2015

Iron metabolism disturbance in a French cohort of ALS patients

scientific article

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

scientific article published on 10 August 2012

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

scientific article published on 15 December 2017

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

scientific article published on 12 September 2017

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

scientific article published on 18 July 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.

scientific article published on 31 July 2010

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

scientific article published on 5 November 2015

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

scientific article published on 7 November 2017

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

scientific article published on 29 January 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.

scientific article published on 13 July 2017

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

scientific article published on 9 May 2016

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

scientific article

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

scientific article

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

scientific article published on 24 February 2015

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

scientific article published on 2 September 2016

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

scientific article published on 24 October 2016

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

scientific article published on 6 February 2007

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

scientific article published on 29 July 2009

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

scientific article published on 25 April 2012

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

scientific article published on 01 March 2018

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

scientific article

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

scientific article published in April 2010

Predictive value of motor evoked potentials in clinically isolated syndrome

scientific article published on 01 March 2011

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

scientific article

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

scientific article

Rhegmatogenous retinal detachment treatment guidelines.

scientific article published on 20 September 2012

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

scientific article published on 01 September 2012

SOD1 mutation can mask C9orf72 abnormal expansion

scientific article

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

scientific article

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

scientific article published on September 2016

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

scientific article published on 14 March 2012

The Metabolic Disturbances of Motoneurons Exposed to Glutamate.

scientific article published on 12 February 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?

scientific article published on 18 October 2017

The glutamate hypothesis in ALS: pathophysiology and drug development.

scientific article published on January 2014

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

scientific article published on 9 January 2017

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

scientific article published on 28 February 2014

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

scientific article published on 20 July 2016

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

scientific article published on 22 May 2018

Vitamin D is Not a Protective Factor in ALS.

scientific article published on 20 June 2015

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

scientific article published on 31 January 2017

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

scientific article published on 13 May 2017

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

scientific article published on 01 June 2010

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

scientific article published on 17 April 2013

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

scientific article published on 28 March 2016

[Genetics of amyotrophic lateral sclerosis]

scientific article published on 02 April 2014

[Investigation of hyperhomocysteinemia].

scientific article

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

scientific article published on 01 January 2008

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

scientific article published on 29 April 2014

Paulina is supported by:

About Paulina

Help