| 37567761 | Leigh syndrome: an adult presentation of a paediatric disease. | Pract Neurol | 2024 |
| 37013609 | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. | EMBO Mol Med | 2023 |
| 34927673 | Forecasting stroke-like episodes and outcomes in mitochondrial disease. | Brain | 2022 |
| 36518302 | Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy. | BMJ Neurol Open | 2022 |
| 35962550 | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. | Neuropathol Appl Neurobiol | 2022 |
| 34325999 | A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. | Neuromuscul Disord | 2021 |
| 33842062 | Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study. | Neurol Clin Pract | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34161705 | Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. | N Engl J Med | 2021 |
| 31600844 | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. | Clin Genet | 2020 |
| 31781911 | Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. | Acta Neuropathol | 2020 |
| 32158465 | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency. | Front Genet | 2020 |
| 30423112 | Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease. | J Clin Endocrinol Metab | 2019 |
| 32090171 | Consensus-based statements for the management of mitochondrial stroke-like episodes. | Wellcome Open Res | 2019 |
| 31187502 | Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. | Ann Neurol | 2019 |
| 31167410 | A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. | J Clin Med | 2019 |
| 31139680 | Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability. | Ann Clin Transl Neurol | 2019 |
| 29298851 | Atypical periodic paralysis and myalgia: A novel <i>RYR1</i> phenotype. | Neurology | 2018 |
| 29735722 | mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. | EMBO Mol Med | 2018 |
| 29560378 | Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. | Ann Clin Transl Neurol | 2018 |
| 29506874 | MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. | EBioMedicine | 2018 |
| 29283441 | Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. | Ann Neurol | 2018 |
| 29264394 | Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. | Neurol Genet | 2017 |
| 28438848 | Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination. | Neurology | 2017 |
| 28395030 | Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. | JAMA Neurol | 2017 |
| 26188002 | Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. | Eur Heart J | 2016 |
| 27506553 | The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. | Sci Rep | 2016 |
| 27453452 | Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. | Ann Neurol | 2016 |
| 27111573 | Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. | JAMA Neurol | 2016 |
| 25207879 | The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. | Kidney Int | 2015 |
| 26381753 | Epilepsy in adults with mitochondrial disease: A cohort study. | Ann Neurol | 2015 |
| 26265210 | Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation. | Mov Disord | 2015 |
| 27858754 | Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. | J Neuromuscul Dis | 2015 |
| 27858729 | Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease. | J Neuromuscul Dis | 2015 |
| 26133662 | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. | Brain | 2015 |
| 25652200 | Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. | Ann Neurol | 2015 |
| 25420100 | Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. | JAMA Neurol | 2015 |
| 24150688 | Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences. | J Neurol | 2014 |
| 24727571 | Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. | Brain | 2014 |
| 24277717 | Disease progression in patients with single, large-scale mitochondrial DNA deletions. | Brain | 2014 |
| 23769710 | Endocrine disorders in mitochondrial disease. | Mol Cell Endocrinol | 2013 |
| 24198295 | Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. | Neurology | 2013 |
| 23742928 | Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. | Int J Cardiol | 2013 |
| 23107649 | Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. | Brain | 2012 |
| 21646632 | RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. | Neurology | 2011 |
| 21907311 | Rapid-onset, linezolid-induced lactic acidosis in MELAS. | Mitochondrion | 2011 |
| 19187065 | Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. | Neuropathol Appl Neurobiol | 2009 |
| 17886296 | Prevalence of mitochondrial DNA disease in adults. | Ann Neurol | 2008 |
| 18984605 | Resistance training in patients with single, large-scale deletions of mitochondrial DNA. | Brain | 2008 |
| 18391161 | Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. | Neurology | 2008 |