about
Multi-system neurological disease is common in patients with OPA1 mutationsPerceived fatigue is highly prevalent and debilitating in patients with mitochondrial diseaseMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceHabitual physical activity in mitochondrial disease.Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationThe clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Generating hand dysaesthesiae: the "GHD phenomenon" - straight to the diagnosisProgressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody.Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.Mitochondrial donation--how many women could benefit?The minimum prevalence of CADASIL in northeast England.Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutationPrevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Epilepsy in adults with mitochondrial disease: A cohort study.Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.Mitochondrial DNA abnormalities in ophthalmological disease.The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsDefining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.Mitochondrial DNA deletions in muscle satellite cells: implications for therapiesHow can we treat mitochondrial encephalomyopathies? Approaches to therapyInitial development and validation of a mitochondrial disease quality of life scale.Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.Disease progression in patients with single, large-scale mitochondrial DNA deletions.Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review.Novel reproductive technologies to prevent mitochondrial disease.Review: Central nervous system involvement in mitochondrial diseaseNutritional interventions in primary mitochondrial disorders: Developing an evidence base.Adult-onset Mendelian PEO Associated with Mitochondrial Disease.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
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P50
description
researcher
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wetenschapper
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հետազոտող
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Grainne Gorman
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Grainne Gorman
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Grainne Gorman
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Gráinne S. Gorman
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Grainne Gorman
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Grainne Gorman
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Grainne Gorman
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Gráinne S. Gorman
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G Gorman
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G S Gorman
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G. Gorman
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G. S. Gorman
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Gorman G
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Gorman G. S.
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Gorman G.
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Gorman GS
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Gorman
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Grainne Gorman
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Grainne Gorman
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Grainne Gorman
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Grainne Gorman
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Gráinne S. Gorman
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P1153
10939248600
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0000-0002-7585-3409