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Author Details

Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
2005
142
37
PMIDPaper TitleJournal TitlePublished Year
37567761Leigh syndrome: an adult presentation of a paediatric disease.Pract Neurol2024
36892629Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.J Neurol2023
37652671T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.Life Sci Alliance2023
37872380A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.Commun Biol2023
37638448Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.J Neuromuscul Dis2023
37013609Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.EMBO Mol Med2023
37298649Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.Int J Mol Sci2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
36813321Stroke-like episodes in adult mitochondrial disease.Handb Clin Neurol2023
36873822The Rheumatoid Arthritis and MUScle (RAMUS) Study: Protocol for an observational single-arm study of skeletal muscle in patients with rheumatoid arthritis receiving tofacitinib.J Frailty Sarcopenia Falls2023
34716721Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.Ann Neurol2022
35617047RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.J Clin Invest2022
35545877Rapid identification of human muscle disease with fibre optic Raman spectroscopy.Analyst2022
35428733l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review.Neurology2022
35393351Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder.Open Heart2022
35388741Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.RNA Biol2022
36199067Correction: 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.Trials2022
36127727Acipimox 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.Trials2022
35190464COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study.Neurology2022
35024855Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.Hum Mol Genet2022
34927673Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain2022
33159463Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".J Inherit Metab Dis2021
33602924POLRMT mutations impair mitochondrial transcription causing neurological disease.Nat Commun2021
33842062Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.Neurol Clin Pract2021
33660162Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study.Patient2021
34703840miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1.Mol Ther Methods Clin Dev2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34146515Mitochondrial disease in adults: recent advances and future promise.Lancet Neurol2021
34027632Interventions for promoting physical activity in people with neuromuscular disease.Cochrane Database Syst Rev2021
33973155Correction to: Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study.Patient2021
31448495Systematic review of cognitive deficits in adult mitochondrial disease.Eur J Neurol2020
34395923A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project.Wellcome Open Res2020
32030781Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.J Inherit Metab Dis2020
31781911Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.Acta Neuropathol2020
31889295Activities of daily living in myotonic dystrophy type 1.Acta Neurol Scand2020
32943091Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.Genome Biol2020
32685350Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletion.JIMD Rep2020
32969525Lower urinary tract dysfunction in adult patients with mitochondrial disease.Neurourol Urodyn2020
32671231Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses.Wellcome Open Res2020
32542526Change over time in ability to perform activities of daily living in myotonic dystrophy type 1.J Neurol2020
32220313Mitochondrial Diseases: Hope for the Future.Cell2020
31600844Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.Clin Genet2020
30285085Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.Hum Mol Genet2019
32090171Consensus-based statements for the management of mitochondrial stroke-like episodes.Wellcome Open Res2019
29987963Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy.Disabil Rehabil2019
31402614Analysis of the functional capacity outcome measures for myotonic dystrophy.Ann Clin Transl Neurol2019
31395669Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.Neurology2019
31187502Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.Ann Neurol2019
31091381Mitochondrial Donation - Which Women Could Benefit?N Engl J Med2019
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
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Collaborators

Newcastle University
Co-authored papers 74
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 71
Newcastle University
Co-authored papers 58
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 40
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 35
School of Clinical Medicine, University of Cambridge
Co-authored papers 35
School of Clinical Medicine, University of Cambridge
Co-authored papers 26
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 18
University of Cambridge
Co-authored papers 9
UCL Great Ormond Street Institute of Child Health
Co-authored papers 6
Massachusetts General Hospital for Children
Co-authored papers 5
Alder Hey Children's NHS Foundation Trust
Co-authored papers 4
Population Health Sciences Institute, Newcastle University
Co-authored papers 4
Maastricht University Medical Centre+
Co-authored papers 3
Akron Children's Hospital
Co-authored papers 3
Co-authored papers 3
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 3
Co-authored papers 3
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 3
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 3
McMaster University Medical Center
Co-authored papers 3
Cardiff University
Co-authored papers 3
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
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Translational and Clinical Research Institute, Newcastle University
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The University of Texas McGovern Medical School
Co-authored papers 2
Co-authored papers 2
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Co-authored papers 2