Found: 30
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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel reproductive technologies to prevent mitochondrial disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 11, p. 1, doi. 10.26508/lsa.202302271
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- Publication type:
- Article
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1111, doi. 10.3233/JND-230099
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- Publication type:
- Article
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.
- Published in:
- Pulmonary Circulation, 2018, v. 8, n. 2, p. 1, doi. 10.1177/2045894018768290
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- Publication type:
- Article
Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction.
- Published in:
- Biochemical Society Transactions, 2024, v. 52, n. 2, p. 553, doi. 10.1042/BST20230191
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- Publication type:
- Article
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 1, p. 117, doi. 10.1002/ana.26260
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- Publication type:
- Article
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
- Published in:
- 2019
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- Publication type:
- journal article
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 5, p. 753, doi. 10.1002/ana.24362
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- Publication type:
- Article
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9698, doi. 10.3390/ijms24119698
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- Publication type:
- Article
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.
- Published in:
- 2020
- By:
- Publication type:
- Letter
The Rheumatoid Arthritis and MUScle (RAMUS) Study: Protocol for an observational single-arm study of skeletal muscle in patients with rheumatoid arthritis receiving tofacitinib.
- Published in:
- Journal of Frailty, Sarcopenia & Falls, 2023, v. 8, n. 1, p. 53, doi. 10.22540/JFSF-08-053
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- Publication type:
- Article
Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 826, doi. 10.1002/acn3.736
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- Publication type:
- Article
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532
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- Publication type:
- Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708262
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- Publication type:
- Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
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- Publication type:
- Article
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.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
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- Publication type:
- Article
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
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- Publication type:
- Article
Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue.
- Published in:
- Journal of Raman Spectroscopy, 2023, v. 54, n. 3, p. 258, doi. 10.1002/jrs.6480
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- Publication type:
- Article
The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats.
- Published in:
- Journal of Raman Spectroscopy, 2022, v. 53, n. 2, p. 172, doi. 10.1002/jrs.6273
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- Publication type:
- Article
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107
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- Publication type:
- Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
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- Publication type:
- Article
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.
- Published in:
- Epilepsia Open, 2018, v. 3, n. 1, p. 103, doi. 10.1002/epi4.12094
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- Publication type:
- Article
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
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- Publication type:
- Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294
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- Publication type:
- Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
- Published in:
- European Heart Journal, 2016, v. 37, n. 32, p. 2552, doi. 10.1093/eurheartj/ehv306
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- Publication type:
- Article
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05238-7
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- Publication type:
- Article
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 668, doi. 10.1001/jamaneurol.2016.0355
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- Publication type:
- Article
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
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- Publication type:
- Article