Professor Grainne Gorman Dr Oksana Pogoryelova
| Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation | 2025 |
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Dr Andreas Roos Dr Oksana Pogoryelova Dr Sally Spendiff Professor Hanns Lochmuller
| Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy | 2024 |
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Professor Hanns Lochmuller Dr Oksana Pogoryelova
| A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy | 2021 |
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Professor Hanns Lochmuller Professor Rita Horvath Dr Oksana Pogoryelova
| Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy | 2021 |
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Dr Oksana Pogoryelova Professor Hanns Lochmuller
| Economic Costs of Myasthenia Gravis: A Systematic Review | 2020 |
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Dr Oksana Pogoryelova Dr Ian Wilson Professor Hanns Lochmuller
| GNE genotype explains 20% of phenotypic variability in GNE myopathy | 2019 |
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Dr Oksana Pogoryelova Professor Hanns Lochmuller Dr Andreas Roos Dr Verena Willenbockel
| 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018 | 2019 |
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Dr Hadil Alrohaif Dr Oksana Pogoryelova Professor Hanns Lochmuller
| Gne myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description | 2018 |
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Dr Oksana Pogoryelova Jose Gonzalez Coraspe Dr Nikoletta Nikolenko Professor Hanns Lochmuller Dr Andreas Roos et al. | GNE myopathy: From clinics and genetics to pathology and research strategies | 2018 |
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Dr Oksana Pogoryelova Phillip Cammish Professor Hanns Lochmuller
| Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion | 2018 |
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Dr Oksana Pogoryelova Professor Jordi Diaz Manera Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database | 2017 |
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Dr Oksana Pogoryelova Professor Michela Guglieri Professor Chiara Marini Bettolo Professor Volker Straub Dr Teresinha Evangelista et al. | Reduced serum myostatin concentrations associated with genetic muscle disease progression | 2017 |
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Dr Oksana Pogoryelova Professor Hanns Lochmuller
| Beevor's sign: a potential clinical marker for GNE myopathy | 2016 |
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Dr Oksana Pogoryelova Professor Hanns Lochmuller
| Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study | 2016 |
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Dr Oksana Pogoryelova Professor Hanns Lochmuller
| GNE myopathy in Roma patients homozygous for the p.I618T founder mutation | 2015 |
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Dr Oksana Pogoryelova Phillip Cammish Professor Hanns Lochmuller
| GNE myopathy worldwide epidemiology based on the patient self-reported registry | 2015 |
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Dr Oksana Pogoryelova Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy | 2015 |
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Dr Ruairidh Martin Dr Oksana Pogoryelova Dr Mauro Santibanez Koref Dr John Bourke Professor Dawn Teare et al. | Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials | 2014 |
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Dr Amina Chaouch Dr Fiona Norwood Professor Rita Horvath Professor Patrick Chinnery Dr Tuomo Polvikoski et al. | Two recurrent mutations are associated with GNE myopathy in the North of Britain | 2014 |
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