103 results on '"Bannwarth, Sylvie"'
Search Results
2. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
3. Primary mitochondrial disorders and mimics: Insights from a large French cohort.
4. Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations
5. TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro
6. NDUFS6 related Leigh syndrome: a case report and review of the literature
7. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
8. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
9. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
10. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
11. ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data.
12. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
13. Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
14. Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
15. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
16. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
17. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
18. Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes
19. 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
20. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion
21. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
22. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
23. A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
24. Neurologic Features and Genotype-Phenotype Correlation in Wolfram Syndrome
25. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
26. HIV-1 TAR RNA: The Target of Molecular Interactions Between the Virus and its Host
27. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
28. Astrocyte Infection by HIV-1: Mechanisms of Restricted Virus Replication, and Role in the Pathogenesis of HIV-1-Associated Dementia
29. Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
30. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
31. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
32. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.
33. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
34. Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
35. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
36. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
37. Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
38. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
39. The human MSH5 (MutS Homolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage
40. TRBP Control of PACT-Induced Phosphorylation of Protein Kinase R Is Reversed by Stress.
41. A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.
42. Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes.
43. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
44. Cell-specific Regulation of TRBP1 Promoter by NF-Y Transcription Factor in Lymphocytes and Astrocytes
45. Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
46. Additive Activity between the Trans-Activation Response RNA-Binding Protein, TRBP2, and Cyclin T1 on HIV Type 1 Expression and Viral Production in Murine Cells.
47. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
48. Cloning and expression of cDNA for a human Gal(β1-3)GalNAc α2,3-sialyltransferase from the CEM T-cell line.
49. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
50. Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene.
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