Works matching DE "MITOCHONDRIAL DNA abnormalities"
Results: 612
Síndrome de encefalomiopatía neurogastrointestinal mitocondrial (MNGIE) familiar en tres pacientes con padres consanguíneos.
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- Revista Mexicana de Neurociencia, 2010, v. 11, n. 6, p. 493
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A Re-Assessment of Positive Selection on Mitochondrial Genomes of High-Elevation Phrynocephalus Lizards.
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- Journal of Molecular Evolution, 2021, v. 89, n. 1/2, p. 95, doi. 10.1007/s00239-020-09991-9
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- Article
Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).
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- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
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Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.
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- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
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Analysis of the molecular mechanism of a fatal myopathy linked to a point mutation in mitochondrial DNA.
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- 2000
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- Abstract
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
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- Acta Neuropathologica, 2016, v. 132, n. 3, p. 453, doi. 10.1007/s00401-016-1592-7
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Investigation of the genetic diversity of domestic Capra hircus breeds reared within an early goat domestication area in Iran.
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- Genetics Selection Evolution, 2014, v. 46, p. 1, doi. 10.1186/1297-9686-46-27
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Metabolic rescue in pluripotent cells from patients with mtDNA disease.
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- Nature, 2015, v. 524, n. 7564, p. 234, doi. 10.1038/nature14546
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First robust genetic links to depression emerge.
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- Nature, 2015, v. 523, n. 7560, p. 268, doi. 10.1038/523268a
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Mitochondrial Disorders in Alzheimer's Disease.
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- Biochemistry (00062979), 2021, v. 86, n. 6, p. 667, doi. 10.1134/S0006297921060055
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- Article
Current and Emerging Therapies for Leber Hereditary Optic Neuropathy.
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- touchREVIEWS in Ophthalmology, 2023, v. 17, n. 1, p. 21, doi. 10.17925/usor.2023.17.1.21
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Toxic Effects of Carbendazim and n-Butyl Isocyanate, Metabolites of the Fungicide Benomyl, on Early Development in the African Clawed Frog, Xenopus laevis.
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- Environmental Toxicology, 2008, v. 23, n. 1, p. 131, doi. 10.1002/tox.20338
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- Article
Protective Effect of Green Tea Polyphenols on Tributyltin-Induced Oxidative Damage Detected by In Vivo and In Vitro Models.
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- Environmental Toxicology, 2008, v. 23, n. 1, p. 77, doi. 10.1002/tox.20312
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The role of mitochondrial DNA mutations in coronary heart disease.
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- European Review for Medical & Pharmacological Sciences, 2020, v. 24, n. 16, p. 8502
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Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast.
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- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 501, doi. 10.3390/biom13030501
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- Article
Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.
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- Clinical & Translational Medicine, 2016, v. 5, n. 1, p. 1, doi. 10.1186/s40169-016-0089-2
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- Article
Acetyl-l-carnitine and nucleoside reverse transcriptase inhibitor-associated neuropathy in HIV infection.
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- HIV Medicine, 2009, v. 10, n. 2, p. 103, doi. 10.1111/j.1468-1293.2008.00658.x
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Mitotypes Based on Structural Variation of Mitochondrial Genomes Imply Relationships With Morphological Phenotypes and Cytoplasmic Male Sterility in Peppers.
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- Frontiers in Plant Science, 2019, v. 10, p. 1, doi. 10.3389/fpls.2019.01343
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A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00245
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- Article
Current Understanding of Mitochondrial DNA in Breast Cancer.
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- Breast Journal, 2009, v. 15, n. 5, p. 505, doi. 10.1111/j.1524-4741.2009.00767.x
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- Article
Leber’s hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample.
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- Ophthalmic Genetics, 2010, v. 31, n. 3, p. 126, doi. 10.3109/13816810.2010.483721
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- Article
Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy.
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- Ophthalmic Genetics, 2008, v. 29, n. 1, p. 17, doi. 10.1080/13816810701867607
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- Article
Secondary mutations of mitochondrial DNA in Japanese patients withLeber's hereditary optic neuropathy.
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- Ophthalmic Genetics, 1999, v. 20, n. 3, p. 153, doi. 10.1076/opge.20.3.153.2281
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- Article
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33530-3
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- Article
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.
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- Genes, 2024, v. 15, n. 4, p. 500, doi. 10.3390/genes15040500
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Mitochondrial Genetic Heterogeneity in Leber's Hereditary Optic Neuropathy: Original Study with Meta-Analysis.
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- Genes, 2021, v. 12, n. 9, p. 1300, doi. 10.3390/genes12091300
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Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
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- Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247
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- Article
Effects of mitoTALENs-Directed Double-Strand Breaks on Plant Mitochondrial Genomes.
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- Genes, 2021, v. 12, n. 2, p. 153, doi. 10.3390/genes12020153
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- Article
Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches.
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- Genes, 2021, v. 12, n. 1, p. 112, doi. 10.3390/genes12010112
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Mitochondrial Sequencing of Missing Persons DNA Casework by Implementing Thermo Fisher's Precision ID mtDNA Whole Genome Assay.
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- Genes, 2020, v. 11, n. 11, p. 1303, doi. 10.3390/genes11111303
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Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.
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- Genes, 2020, v. 11, n. 9, p. 1037, doi. 10.3390/genes11091037
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Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions.
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- Genes, 2020, v. 11, n. 2, p. 192, doi. 10.3390/genes11020192
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Phylogenetic Analysis and Substitution Rate Estimation of Colonial Volvocine Algae Based on Mitochondrial Genomes.
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- Genes, 2020, v. 11, n. 1, p. 115, doi. 10.3390/genes11010115
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Leishmania Mitochondrial Genomes: Maxicircle Structure and Heterogeneity of Minicircles.
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- Genes, 2019, v. 10, n. 10, p. 758, doi. 10.3390/genes10100758
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Going Deeper into High and Low Phylogenetic Relationships of Protura.
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- Genes, 2019, v. 10, n. 4, p. 292, doi. 10.3390/genes10040292
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Mitochondrial DNA Mutations and Diabetes: Another Step toward Individualized Medicine.
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- Annals of Internal Medicine, 2001, v. 134, n. 9, p. 777, doi. 10.7326/0003-4819-134-9_Part_1-200105010-00014
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Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
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- Acta Neurologica Scandinavica, 2006, v. 114, n. 5, p. 350, doi. 10.1111/j.1600-0404.2006.00673.x
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Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome.
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- Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 2, p. 201, doi. 10.1016/j.ejmhg.2012.10.005
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Mitochondrial DNA association study of type 2 diabetes with or without ischemic stroke in Taiwan.
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- BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-223
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Mud crab susceptibility to disease from white spot syndrome virus is species-dependent.
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- BMC Research Notes, 2010, v. 3, p. 315, doi. 10.1186/1756-0500-3-315
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Mitochondrial Dysfunction in Multiple Sclerosis: A Systematic Review.
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- Acta Medica Iranica, 2019, v. 57, n. 1, p. 5
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- Article
Point mutation on tRNA <sup>ser(UCN)</sup> gene of mtDNA is associated with respiratory complex i deficiency.
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- 2008
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- Abstract
Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03582-x
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- Article
THE GOOD, THE BAD, AND THE HEALTHY: HOW SPINDLE-CHROMOSOMAL COMPLEX TRANSFER CAN IMPROVE THE FUTURE.
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- Albany Law Review, 2011, v. 74, n. 1, p. 361
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- Article
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10826, doi. 10.3390/ijms251910826
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Mitochondria in Human Fertility and Infertility.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8950, doi. 10.3390/ijms24108950
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- Article
Optic Neuropathies: Current and Future Strategies for Optic Nerve Protection and Repair.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 6977, doi. 10.3390/ijms24086977
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Comprehensive Molecular Characterization of the Mitochondrial Genome of the Takin Lungworm Varestrongylus eleguneniensis (Strongylida: Protostrongylidae).
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13597, doi. 10.3390/ijms232113597
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Solutions to a Radical Problem: Overview of Current and Future Treatment Strategies in Leber's Hereditary Opic Neuropathy.
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- 2022
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- Literature Review
Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11891, doi. 10.3390/ijms231911891
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- Article