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Retraction Note: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Can mitochondrial DNA mutations cause sperm dysfunction?
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 8, p. 719, doi. 10.1093/molehr/8.8.719
- By:
- Publication type:
- Article
Metabolic effects of bezafibrate in mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
- By:
- Publication type:
- Article
Mitochondrial disease in adults: what's old and what's new?
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 12, p. 1503, doi. 10.15252/emmm.201505079
- By:
- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
- By:
- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Monitoring clinical progression with mitochondrial disease biomarkers.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Emerging therapies for mitochondrial disorders.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- Letter
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Evaluation of exome sequencing variation in undiagnosed ataxias.
- Published in:
- 2015
- By:
- Publication type:
- commentary
Nuclear-mitochondrial proteins: too much to process?
- Published in:
- 2015
- By:
- Publication type:
- journal article
Exome sequencing in undiagnosed inherited and sporadic ataxias.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
- By:
- Publication type:
- Article
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Genes and Cognition, a recallable cohort to study Dementia/Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074887
- By:
- Publication type:
- Article
Genes and Cognition, a recallable cohort to study Dementia/Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074887
- By:
- Publication type:
- Article
Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02069-2
- By:
- Publication type:
- Article
Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.
- Published in:
- Development, Growth & Differentiation, 2018, v. 60, n. 1, p. 21, doi. 10.1111/dgd.12420
- By:
- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
- By:
- Publication type:
- Article
Cell reprogramming shapes the mitochondrial DNA landscape.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25482-x
- By:
- Publication type:
- Article
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1292320
- By:
- Publication type:
- Article
HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.
- Published in:
- Frontiers in Neuroanatomy, 2016, v. 10, p. 1, doi. 10.3389/fnana.2016.00086
- By:
- Publication type:
- Article
A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues.
- Published in:
- Stem Cells, 2009, v. 27, n. 6, p. 1410, doi. 10.1002/stem.67
- By:
- Publication type:
- Article
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1282, doi. 10.1038/ng.2427
- By:
- Publication type:
- Article
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 806, doi. 10.1038/ng.863
- By:
- Publication type:
- Article
Reassessing evidence for a postnatal mitochondrial genetic bottleneck.
- Published in:
- 2010
- By:
- Publication type:
- Letter
What causes mitochondrial DNA deletions in human cells?
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 275, doi. 10.1038/ng.f.94
- By:
- Publication type:
- Article
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 249, doi. 10.1038/ng.2007.63
- By:
- Publication type:
- Article
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 350, doi. 10.1038/ng571
- By:
- Publication type:
- Article
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 147, doi. 10.1038/13779
- By:
- Publication type:
- Article
A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians.
- Published in:
- BMC Ophthalmology, 2005, v. 5, p. 5, doi. 10.1186/1471-2415-5-5
- By:
- Publication type:
- Article
Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007126
- By:
- Publication type:
- Article
Response to Simon et al.,.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0434-8
- By:
- Publication type:
- Article
Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02217
- By:
- Publication type:
- Article
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2012, v. 18, n. 2, p. 240, doi. 10.1177/1352458511416838
- By:
- Publication type:
- Article
Age-Related Mitochondrial DNA Depletion and the Impact on Pancreatic Beta Cell Function.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115433
- By:
- Publication type:
- Article
Reactive Oxygen Species Production and Mitochondrial Dysfunction in White Blood Cells Are Not Valid Biomarkers of Ageing in the Very Old.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091005
- By:
- Publication type:
- Article
<i>In Vivo</i> Mitochondrial Function in HIV-Infected Persons Treated with Contemporary Anti-Retroviral Therapy: A Magnetic Resonance Spectroscopy Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084678
- By:
- Publication type:
- Article
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075048
- By:
- Publication type:
- Article
Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063446
- By:
- Publication type:
- Article
Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052080
- By:
- Publication type:
- Article
Correction: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Correction: Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments.
- Published in:
- Trials, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13063-023-07606-4
- By:
- Publication type:
- Article
Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 6, p. 757, doi. 10.1002/mus.10492
- By:
- Publication type:
- Article