194 results on '"Bannwarth, Sylvie"'
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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. 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. NDUFS6 related Leigh syndrome: a case report and review of the literature
8. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
9. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
10. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
11. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
12. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
13. A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases
14. Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China
15. CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
16. Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
17. Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
18. Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis
19. ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data.
20. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
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. Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes
27. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
28. 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
29. Reply: MFN2, a new gene responsible for mitochondrial DNA depletion
30. Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation
31. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
32. A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
33. Neurologic Features and Genotype-Phenotype Correlation in Wolfram Syndrome
34. Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
35. HIV-1 TAR RNA: The Target of Molecular Interactions Between the Virus and its Host
36. Astrocyte Infection by HIV-1: Mechanisms of Restricted Virus Replication, and Role in the Pathogenesis of HIV-1-Associated Dementia
37. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
38. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions (vol 26, pg 1599, 2017)
39. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
40. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
41. Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.
42. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
43. CA-076 - Étude phénotypique des mutations rares responsables de diabète mitochondrial
44. Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
45. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
46. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
47. Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
48. Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
49. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
50. Rapid Identification of Unknown Heteroplasmic Mitochondrial DNA Mutations with Mismatch-Specific Surveyor Nuclease.
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