102 results on '"Blasco, Helene"'
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2. Validation of metabolomic and lipidomic analyses of human tears using ultra-high-performance liquid chromatography tandem mass spectrometry
3. Inflammatory mediators, lipoproteins and apolipoproteins in early diagnosis of amyotrophic lateral sclerosis
4. Insomnia is frequent in amyotrophic lateral sclerosis at the time of diagnosis
5. Clinical performance of four immunoassays for antibodies to SARS-CoV-2, including a prospective analysis for the diagnosis of COVID-19 in a real-life routine care setting
6. SHR/NCrl rats as a model of ADHD can be discriminated from controls based on their brain, blood, or urine metabolomes
7. Enabling quantification of protein concentration in human serum biopsies using attenuated total reflectance – Fourier transform infrared (ATR-FTIR) spectroscopy
8. Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
9. Identification of metabolic pathway disturbances using multimodal metabolomics in autistic disorders in a Middle Eastern population
10. Workflow methodology for rat brain metabolome exploration using NMR, LC–MS and GC–MS analytical platforms
11. Predicting the microbial cause of community-acquired pneumonia: can physicians or a data-driven method differentiate viral from bacterial pneumonia at patient presentation?
12. Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome
13. Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis
14. 1H–13C NMR-based urine metabolic profiling in autism spectrum disorders
15. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
16. Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis
17. Niveau de preuve du suivi thérapeutique pharmacologique du méthotrexate au décours de son administration à haute-dose
18. Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS
19. Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
20. Decisional Early Interim 18F-Fluoro-2-Deoxy-D-Glucose Positron Emission Tomography after Two Cycles of Chemotherapy in de novo Hodgkin Lymphoma
21. Quantification of coproporphyrin isomers I and III in urine by HPLC and determination of their ratio for investigations of Multidrug Resistance Protein 2 (MRP2) function in humans
22. Les critères d’utilisation de la carboxypeptidase dans les surexpositions au méthotrexate doivent être mieux définis
23. Predictions of Metabolic Drug-Drug Interactions Using Physiologically Based Modelling: Two Cytochrome P450 3A4 Substrates Coadministered with Ketoconazole or Verapamil
24. Muscle cells of sporadic ALS patients secrete neurotoxic vesicles
25. Is There a Role for Vitamin D in Amyotrophic Lateral Sclerosis? A Systematic Review and Meta-Analysis
26. Additional file 1 of Predicting the microbial cause of community-acquired pneumonia: can physicians or a data-driven method differentiate viral from bacterial pneumonia at patient presentation?
27. Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
28. Insomnia is frequent in amyotrophic lateral sclerosis at the time of diagnosis
29. Understanding and managing metabolic dysfunction in Amyotrophic Lateral Sclerosis
30. Predicting the microbial cause of community-acquired pneumonia: can physicians or a data-driven method differentiate viral from bacterial pneumonia at patient presentation?
31. Predicting the microbial cause of community-acquired pneumonia: can physicians or a data-driven method differentiate viral from bacterial pneumonia at patient presentation?
32. Heart failure is associated with accumulation of long chain acylcarnitines in children suffering from cardiomyopathy
33. Low specificity of urinary 3-methoxytyramine in screening of dopamine-secreting pheochromocytomas and paragangliomas
34. Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability
35. Cerebrospinal fluid metabolomics in West Syndrome: central role of the serine metabolic pathway
36. Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons
37. 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
38. Inborn Errors of Metabolism in Elderly Adults
39. Phenotypic and genotypic studies of ALS cases in ALS-SMA families.
40. Decisional Early Interim 18F-Fluoro-2-Deoxy-D-Glucose Positron Emission Tomography after Two Cycles of Chemotherapy in de novo Hodgkin Lymphoma
41. Impact of dihydropyrimidine deshydrogenase (DPD) deficiency on treatment outcome in patients receiving 5-fluorouracil (5-FU) as part of polychemotherapy
42. Cost-effectiveness study of UGT1A1 genotype screening in patients who require irinotecan for a colorectal cancer
43. Amyotrophic lateral sclerosis: A hormonal condition?
44. Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
45. Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.
46. L’inhibition de la sumoylation dans des cultures de motoneurones entraîne une réduction de l’agrégation de la protéine mutante SOD1 impliquée dans la SLA
47. Les biomarqueurs dans la SLA : l’apport de la combinaison de paramètres cliniques et métabolomiques pour prédire la progression de la maladie
48. Decisional Early Interim F-Fluoro-2-Deoxy-D-Glucose Positron Emission Tomography after Two Cycles of Chemotherapy in de novo Hodgkin Lymphoma.
49. A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis
50. Impédancemétrie : indentification de facteurs de mauvais pronostics dans la SLA
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