150 results on '"Falkous, Gavin"'
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2. Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy
3. Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy
4. Pathogenic mtDNA mutations causing mitochondrial myopathy
5. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
6. Changing faces of mitochondrial disease: autosomal recessivePOLGdisease mimicking myasthenia gravis and progressive supranuclear palsy
7. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
8. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
9. Additional file 2 of Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy
10. Additional file 1 of Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy
11. Additional file 3 of Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy
12. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
13. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity
14. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
15. Disease progression in patients with single, large-scale mitochondrial DNA deletions
16. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
17. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
18. Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant
19. Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency
20. ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy
21. Sub-cellular origin of mtDNA deletions in human skeletal muscle
22. Subcellular origin of mitochondrial DNA deletions in human skeletal muscle
23. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance
24. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
25. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
26. A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia
27. Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network
28. Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
29. Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy
30. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
31. ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy
32. Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene
33. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study
34. Effect of ethanol and acetaldehyde on intracellular protease activities in human liver, brain and muscle tissues in vitro
35. Effect of flavonoids on protease activities in human skeletal muscle tissue in vitro
36. Quantification of protease activities in synovial fluid from rheumatoid and osteoarthritis cases: comparison with antioxidant and free radical damage markers
37. Disease progression in patients with single, large-scale mitochondrial DNA deletions
38. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency
39. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
40. Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls
41. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
42. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
43. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression
44. Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutation
45. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
46. Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
47. Carbonyl Levels in Type I and II Fiber‐Rich Muscles and Their Response to Chronic Ethanol Feeding In Vivo and Hydroxyl and Superoxide Radicals In Vitro
48. Comparison of methods for determination of total antioxidant status: application to analysis of medicinal plant essential oils
49. Comparison of aminopeptidase inhibition by amino acids in human and porcine skeletal muscle tissues in vitro
50. Comparison of proline endopeptidase activity in brain tissue from normal cases and cases with Alzheimer's disease, Lewy body dementia, Parkinson's disease and Huntington's disease
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