426 results on '"van der Westhuizen, Francois"'
Search Results
2. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
3. A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
4. A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease
5. Cell-free circulating mitochondrial DNA: An emerging biomarker for airborne particulate matter associated with cardiovascular diseases
6. Sarcopenia in a type 2 diabetic state: Reviewing literature on the pathological consequences of oxidative stress and inflammation beyond the neutralizing effect of intracellular antioxidants
7. Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease
8. Aberrant BCAA and glutamate metabolism linked to regional neurodegeneration in a mouse model of Leigh syndrome
9. Metallothionein 1 Overexpression Does Not Protect Against Mitochondrial Disease Pathology in Ndufs4 Knockout Mice
10. Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
11. Cross-comparison of systemic and tissue-specific metabolomes in a mouse model of Leigh syndrome
12. A call for global action for rare diseases in Africa
13. Attenuation of Endoplasmic Reticulum Stress, Impaired Calcium Homeostasis, and Altered Bioenergetic Functions in MPP+-Exposed SH-SY5Y Cells Pretreated with Rutin
14. Metabolomics of Ndufs4−/− skeletal muscle: Adaptive mechanisms converge at the ubiquinone-cycle
15. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
16. One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
17. Neuromuscular disease genetics in under-represented populations: increasing data diversity
18. MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
19. Use of metabolomics to elucidate the metabolic perturbation associated with hypertension in a black South African male cohort: the SABPA study
20. A case for genomic medicine in South African paediatric patients with neuromuscular disease
21. A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease
22. Kinetic analysis, size profiling, and bioenergetic association of DNA released by selected cell lines in vitro
23. Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson’s Disease from Mitochondrial Dysfunction and Cell Death
24. Metallothionein 1 overexpression does not protect against mitochondrial disease pathology in Ndufs4 knockout mice
25. Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor
26. Exploring the link between serum peroxides and angiogenesis in a bi-ethnic population from South Africa: The SAfrEIC study
27. Development and validation of LC-ESI-MS/MS methods for quantification of 27 free and conjugated estrogen-related metabolites
28. Development and validation of LC-ESI-MS/MS methods for quantification of 27 free and conjugated estrogen-related metabolites
29. DNA methylation associated with mitochondrial dysfunction in a south african autism spectrum disorder cohort
30. A call for global action for rare diseases in Africa
31. Data on the optimisation of a solid phase extraction method for fractionating estrogen metabolites from small urine volumes
32. Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies
33. 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
34. Health Status Is Affected, and Phase I/II Biotransformation Activity Altered in Young Women Using Oral Contraceptives Containing Drospirenone/Ethinyl Estradiol
35. Curcumin pre-treatment may protect against mitochondrial damage in LRRK2-mutant Parkinson's disease and healthy control fibroblasts
36. Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop
37. Systemic and organ specific metabolic variation in metallothionein knockout mice challenged with swimming exercise
38. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach
39. Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
40. Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia
41. An overview of a cohort of South African patients with mitochondrial disorders
42. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies
43. The effects of high walnut and cashew nut diets on the antioxidant status of subjects with metabolic syndrome
44. Glycation of fibrinogen in uncontrolled diabetic patients and the effects of glycaemic control on fibrinogen glycation
45. Inhibition of complex I of the electron transport chain causes [O.sup.-.sub.2]*-mediated mitochondrial outgrowth
46. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
47. Toward a mtDNA locus-specific mutation database using the LOVD platform
48. Metallothionein 1 Overexpression Does Not Protect Against Mitochondrial Disease Pathology in Ndufs4 Knockout Mice
49. DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort
50. Data on the optimisation of a solid phase extraction method for fractionating estrogen metabolites from small urine volumes
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