181 results on '"Paquis-Flucklinger, Véronique"'
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2. CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia
3. Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
4. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
5. Cardiac dyspnea risk zones in the South of France identified by geo-pollution trends study
6. GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies
7. A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations
8. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors
9. Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis
10. NDUFS6 related Leigh syndrome: a case report and review of the literature
11. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
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
13. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
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
28. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
29. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
30. A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
31. Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France
32. hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization
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
35. Microvascular Diabetes Complications in Wolfram Syndrome (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness [DIDMOAD]): An age- and duration-matched comparison with common type 1 diabetes
36. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.
37. Association between MSH4 (MutS homologue 4) and the DNA strand-exchange RAD51 and DMC1 proteins during mammalian meiosis
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
44. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
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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