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28 results on '"Aubart, Mélodie"'

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1. SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

2. Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

3. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

4. Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy.

6. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

7. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

8. Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

9. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

10. Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging

11. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

12. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

13. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

14. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

15. Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

17. Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020

18. Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

19. Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

20. Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

21. Therapeutic Plasma Exchange in Pediatrics for Immunologic Disorders; Tolerated and Safe Process for Pediatric Life-Threatening Conditions

23. Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016

24. Homozygous and compound heterozygous mutations in theFBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome

25. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

26. Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

27. Homozygous and compound heterozygous mutations in the FBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome

28. Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023.

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