259 results on '"Gorman, Gráinne S."'
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2. Stroke-like episodes in adult mitochondrial disease
3. Intensive Care Implications in Primary Mitochondrial Disease
4. Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction
5. 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
6. Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease
7. Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology
8. Mitochondrial disease in adults: recent advances and future promise
9. Clinical and genotypic aspects of mitochondrial disease
10. POLRMT mutations impair mitochondrial transcription causing neurological disease
11. Leigh syndrome: an adult presentation of a paediatric disease.
12. T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants
13. Leigh syndrome: an adult presentation of a paediatric disease
14. Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls
15. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
16. Neuromuscular junction abnormalities in mitochondrial disease: An observational cohort study
17. T cell differentiation drives the negative selection of pathogenic mtDNA variants
18. Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.
19. The Rheumatoid Arthritis and MUScle (RAMUS) Study: Protocol for an observational single-arm study of skeletal muscle in patients with rheumatoid arthritis receiving tofacitinib
20. Strength training rescues mitochondrial dysfunction in skeletal muscle of patients with myotonic dystrophy type 1
21. Model systems informing mechanisms and drug discovery: a systematic review of POLG-related disease models
22. Opening Oneʼs Eyes to Mosaicism in Progressive External Ophthalmoplegia
23. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
24. Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue
25. Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder
26. RRM2B-Related Mitochondrial Disease
27. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
28. Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
29. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease
30. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
31. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
32. 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
33. 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
34. 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
35. Novel reproductive technologies to prevent mitochondrial disease
36. Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue.
37. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
38. Rapid identification of human muscle disease with fibre optic Raman spectroscopy
39. Mitochondrial diseases
40. Forecasting stroke-like episodes and outcomes in mitochondrial disease
41. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
42. The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats
43. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
44. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
45. Mitochondrial Donation — How Many Women Could Benefit?
46. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
47. Metabolic Myopathies
48. Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects
49. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
50. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study
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