129 results on '"Gorman, Gráinne S."'
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2. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
3. 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. 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
5. Clinical and genotypic aspects of mitochondrial disease
6. POLRMT mutations impair mitochondrial transcription causing neurological disease
7. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
8. Neuromuscular junction abnormalities in mitochondrial disease: An observational cohort study
9. T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants
10. The Rheumatoid Arthritis and MUScle (RAMUS) Study: Protocol for an observational single-arm study of skeletal muscle in patients with rheumatoid arthritis receiving tofacitinib
11. Model systems informing mechanisms and drug discovery: a systematic review of POLG-related disease models
12. Opening Oneʼs Eyes to Mosaicism in Progressive External Ophthalmoplegia
13. Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
14. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
15. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
16. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
17. Novel reproductive technologies to prevent mitochondrial disease
18. 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
19. 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
20. 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
21. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease
22. Forecasting stroke-like episodes and outcomes in mitochondrial disease
23. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
24. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study
25. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
26. Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects
27. A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project [version 1; peer review: 1 approved]
28. The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease
29. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
30. Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
31. Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses
32. Mitochondrial Diseases: Hope for the Future
33. Consensus-based statements for the management of mitochondrial stroke-like episodes
34. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
35. Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
36. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance
37. Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability
38. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
39. Neuromuscular Junction Abnormalities in Mitochondrial Disease An Observational Cohort Study.
40. Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
41. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
42. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
43. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
44. Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene
45. mt DNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
46. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study
47. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
48. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA
49. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
50. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
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