331 results on '"Lombès, Anne"'
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2. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
3. MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis
4. Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia
5. Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue
6. Data Supplement from Mitochondrial Retrograde Signaling Mediated by UCP2 Inhibits Cancer Cell Proliferation and Tumorigenesis
7. Data from Mitochondrial Retrograde Signaling Mediated by UCP2 Inhibits Cancer Cell Proliferation and Tumorigenesis
8. Riboflavin and CoQ Disorders
9. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
10. Coenzyme Q 10 is frequently reduced in muscle of patients with mitochondrial myopathy
11. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
12. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
13. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
14. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
15. Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies
16. Probenecid potentiates MPTP/MPP+ toxicity by interference with cellular energy metabolism
17. Riboflavin and CoQ Disorders
18. Separate fusion of outer and inner mitochondrial membranes
19. Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome
20. D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?
21. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
22. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
23. Use of H2O2 to Cause Oxidative Stress, the Catalase Issue
24. Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
25. Hypoxia Promotes Mitochondrial Complex I Abundance via HIF-1α in Complex III and Complex IV Deficient Cells
26. Homoplasmic mitochondrial tRNAPromutation causing exercise-induced muscle swelling and fatigue
27. USP9X deubiquitinase couples the pluripotency network and cell metabolism to regulate ESC differentiation potential
28. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
29. Liver damage underlying unexplained transaminase elevation in human immunodeficiency virus-1 mono-infected patients on antiretroviral therapy#
30. Hepatitis C virus viral recurrence and liver mitochondrial damage after liver transplantation in HIV–HCV co-infected patients
31. Kinetic analysis of ATP hydrolysis by complex V in four murine tissues: Towards an assay suitable for clinical diagnosis
32. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
33. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
34. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation
35. The HIV-1 nucleoside reverse transcriptase inhibitors stavudine and zidovudine alter adipocyte functions in vitro
36. Annonacin, a lipophilic inhibitor of mitochondrial complex I, induces nigral and striatal neurodegeneration in rats: possible relevance for atypical parkinsonism in Guadeloupe
37. Dysfunction of mitochondrial complex I and the proteasome: interactions between two biochemical deficits in a cellular model of Parkinsonʼs disease
38. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
39. Zidovudine-induced mitochondrial disorder with massive liver steatosis, myopathy, lactic acidosis, and mitochondrial DNA depletion
40. Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases
41. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
42. MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis
43. Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts
44. Mitochondrial stress response triggered by defects in protein synthesis quality control
45. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
46. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
47. Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53.
48. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency:is riboflavin supplementation effective?
49. Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
50. Drug-Induced Alterations of Mitochondrial DNA Homeostasis in Steatotic and Nonsteatotic HepaRG Cells
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