285 results on '"Bannwarth, Sylvie"'
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2. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
3. Primary mitochondrial disorders and mimics: Insights from a large French cohort.
4. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
5. Author Correction: TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro
6. TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro
7. Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations
8. NDUFS6 related Leigh syndrome: a case report and review of the literature
9. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
10. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
11. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
12. Multiomics study ofCHCHD10S59L-related disease reveals energy metabolism downregulation: OXPHOS and β-oxidation deficiencies associated with lipids alterations
13. ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data
14. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability
15. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
16. A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases
17. Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China
18. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
19. CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
20. Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
21. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
22. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
23. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
24. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
25. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
26. SLP2/prohibitins aggregates and instability of the PHB complex are key elements in CHCHD10S59L-related disease
27. Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives
28. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
29. Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases
30. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
31. Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes
32. Characterization of TRBP1 and TRBP2: Stable stem-loop structure at the 5′ end of TRBP2 mRNA resembles HIV-1 TAR and is not found in its processed pseudogene
33. Rapid Identification of Unknown Heteroplasmic Mitochondrial DNA Mutations with Mismatch-Specific Surveyor Nuclease
34. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion
35. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
36. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
37. A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
38. Neurologic Features and Genotype-Phenotype Correlation in Wolfram Syndrome
39. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
40. A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
41. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
42. HIV-1 TAR RNA: The Target of Molecular Interactions Between the Virus and its Host
43. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
44. Astrocyte Infection by HIV-1: Mechanisms of Restricted Virus Replication, and Role in the Pathogenesis of HIV-1-Associated Dementia
45. Additional file 1: of Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
46. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance
47. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
48. Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
49. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions (vol 26, pg 1599, 2017)
50. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance
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