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181 results on '"Paquis-Flucklinger, Véronique"'

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8. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors

12. Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

14. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

15. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

16. NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework

17. Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

18. Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

19. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

20. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

21. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

22. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

23. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

24. Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives

25. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

26. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

27. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion

31. Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France

33. NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.

34. The OncoAge Consortium: Linking Aging and Oncology from Bench to Bedside and Back Again

36. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.

38. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance

39. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

40. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

41. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

42. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

43. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

45. Reply: High prevalence ofCHCHD10mutations in patients with frontotemporal dementia from China: Table 1

46. CHCHD 10mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

47. NDUFS6related Leigh syndrome: a case report and review of the literature

48. Reply: IsCHCHD10Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

49. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation: Table 1

50. Reply:CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis

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