270 results on '"Paquis-Flucklinger, Véronique"'
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2. Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
3. CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia
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. Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains
8. Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations
9. A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations
10. Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis
11. GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors
12. NDUFS6 related Leigh syndrome: a case report and review of the literature
13. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
14. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
15. Double Trouble Mutations Underlie Mitochondrial Dynamics Disorders in a Severe Form of Charcot-Marie-Tooth Disease
16. A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
17. A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
18. 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
19. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability
20. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
21. Chapitre 20 - Maladies génétiques fréquentes de transmission non mendélienne : les maladies mitochondriales
22. NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework
23. Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China
24. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
25. CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
26. Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
27. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
28. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
29. De Novo 4q Duplication/Deletion in a Fetus with a Congenital Heart Defect
30. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
31. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
32. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
33. SLP2/prohibitins aggregates and instability of the PHB complex are key elements in CHCHD10S59L-related disease
34. Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives
35. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
36. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
37. Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes
38. Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains
39. Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France
40. NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.
41. Rapid Identification of Unknown Heteroplasmic Mitochondrial DNA Mutations with Mismatch-Specific Surveyor Nuclease
42. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion
43. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
44. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
45. A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
46. Neurologic Features and Genotype-Phenotype Correlation in Wolfram Syndrome
47. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
48. hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization
49. The OncoAge Consortium: Linking Aging and Oncology from Bench to Bedside and Back Again
50. CRM1-dependent nuclear export and dimerization with hMSH5 contribute to the regulation of hMSH4 subcellular localization
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