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ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00984-x
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- Publication type:
- Article
Kynurenic Acid: A Novel Player in Cardioprotection against Myocardial Ischemia/Reperfusion Injuries.
- Published in:
- Pharmaceuticals (14248247), 2023, v. 16, n. 10, p. 1381, doi. 10.3390/ph16101381
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- Publication type:
- Article
High‐throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 6, p. 1, doi. 10.15252/emmm.202013579
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- Publication type:
- Article
How Can a Ketogenic Diet Improve Motor Function?
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00015
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- Publication type:
- Article
Dominant optic atrophy.
- Published in:
- 2012
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- Publication type:
- journal article
Dominant optic atrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 46, doi. 10.1186/1750-1172-7-46
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- Publication type:
- Article
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 91, doi. 10.1093/brain/awad347
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- Publication type:
- Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
- Published in:
- 2023
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- Publication type:
- journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
- Published in:
- 2017
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- Publication type:
- journal article
Decreased expression of thyrotropin receptor gene suggests a high-risk subgroup for oncocytic adenoma.
- Published in:
- European Journal of Endocrinology, 2004, v. 150, n. 3, p. 0269
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- Publication type:
- Article
Metabolomic Profiling of Angiotensin-II-Induced Abdominal Aortic Aneurysm in Ldlr −/− Mice Points to Alteration of Nitric Oxide, Lipid, and Energy Metabolisms.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6387, doi. 10.3390/ijms23126387
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- Publication type:
- Article
Metabolomic Approach in STEMI-Patients Undergoing Left Ventricular Remodeling.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 289, doi. 10.3390/ijms20020289
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- Publication type:
- Article
Long‐term persistence of mitochondrial dysfunctions after viral infections and antiviral therapies: A review of mechanisms involved.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 9, p. 1, doi. 10.1002/jmv.29886
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- Publication type:
- Article
Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2399, doi. 10.3390/jcm10112399
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- Publication type:
- Article
Mitochondrial DNA Parameters in Blood of Infants Receiving Lopinavir/Ritonavir or Lamivudine Prophylaxis to Prevent Breastfeeding Transmission of HIV-1.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2972, doi. 10.3390/jcm9092972
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- Publication type:
- Article
Endometriosis Lowers the Cumulative Live Birth Rates in IVF by Decreasing the Number of Embryos but Not Their Quality.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2478, doi. 10.3390/jcm9082478
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- Publication type:
- Article
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2105, doi. 10.3390/jcm9072105
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- Publication type:
- Article
Elevated Levels of Monocyte Chemotactic Protein-1 in the Follicular Fluid Reveals Different Populations among Women with Severe Endometriosis.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1306, doi. 10.3390/jcm9051306
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- Publication type:
- Article
Sickle Cell Disease: Metabolomic Profiles of Vaso-Occlusive Crisis in Plasma and Erythrocytes.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 1092, doi. 10.3390/jcm9041092
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- Publication type:
- Article
A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 631, doi. 10.3390/jcm9030631
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- Publication type:
- Article
A Metabolomic Profile of Seminal Fluid in Extremely Severe Oligozoopermia Suggesting an Epididymal Involvement.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 12, p. 1266, doi. 10.3390/metabo12121266
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- Publication type:
- Article
A Data Mining Metabolomics Exploration of Glaucoma.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 2, p. 49, doi. 10.3390/metabo10020049
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- Publication type:
- Article
Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27426-x
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- Publication type:
- Article
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1266686
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- Publication type:
- Article
CARENCE EN VITAMINE D ET RISQUE DE CANCER DU SEIN AVANCE AU MALI.
- Published in:
- Mali Médical, 2024, v. 39, n. 2, p. 50
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- Publication type:
- Article
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 565, doi. 10.1002/ajmg.a.61384
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- Publication type:
- Article
Neurotoxicité des pesticides Quel impact sur les maladies neurodégénératives?
- Published in:
- Médecine Sciences, 2013, v. 29, n. 3, p. 273, doi. 10.1051/medsci/2013293013
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- Publication type:
- Article
Biochimie thanatologique : ses apports au diagnostic de décès par hypothermie.
- Published in:
- Annales de Biologie Clinique, 2019, v. 77, n. 6, p. 651, doi. 10.1684/abc.2019.1496
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- Publication type:
- Article
Le syndrome d'Alagille : à propos d'un cas.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 6, p. 675, doi. 10.1684/abc.2018.1399
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- Publication type:
- Article
Biochimie thanatologique : intérêt de l'étude post mortem de l'humeur vitrée pour le diagnostic de décès par acidocétose diabétique.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 3, p. 245, doi. 10.1684/abc.2018.1348
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- Publication type:
- Article
Déficit en myoadénylate désaminase : une cause fréquente de douleurs musculaires À propos d'un cas dépisté par épreuve d'effort.
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 4, p. 445, doi. 10.1684/abc.2017.1253
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- Publication type:
- Article
Le syndrome d’interruption de la tige pituitaire : une cause rare et sévère d’insuffisance hypophysaire: À propos du diagnostic biologique d’un cas de découverte néonatale.
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 2, p. 215, doi. 10.1684/abc.2017.1222
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- Publication type:
- Article
La bêta-thalassémie intermédiaire, une particularité clinicobiologique : à propos d'un cas.
- Published in:
- Annales de Biologie Clinique, 2016, v. 74, n. 6, p. 688, doi. 10.1684/abc.2016.1197
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- Publication type:
- Article
Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144290
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- Publication type:
- Article
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242
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- Publication type:
- Article
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Two-Step Differential Expression Analysis Reveals a New Set of Genes Involved in Thyroid Oncocytic Tumors.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 4, p. 2314, doi. 10.1210/jc.2004-1337
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- Publication type:
- Article
Transcriptional Profiling Reveals Coordinated Up-Regulation of Oxidative Metabolism Genes in Thyroid Oncocytic Tumors.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 994, doi. 10.1210/jc.2003-031238
- By:
- Publication type:
- Article
A serum metabolomics signature of hypothermia fatalities involving arginase activity, tryptophan content, and phosphatidylcholine saturation.
- Published in:
- International Journal of Legal Medicine, 2019, v. 133, n. 3, p. 889, doi. 10.1007/s00414-018-1937-y
- By:
- Publication type:
- Article
A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated Orbitopathy.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 2, p. 404, doi. 10.3390/jcm11020404
- By:
- Publication type:
- Article
Discordant Predictions of Extraglandular Involvement in Primary Sjögren's Syndrome According to the Anti-SSA/Ro60 Antibodies Detection Assay in a Cohort Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 242, doi. 10.3390/jcm11010242
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- Publication type:
- Article
Metabolomic signature of the seminal plasma in men with severe oligoasthenospermia.
- Published in:
- Andrology, 2020, v. 8, n. 6, p. 1859, doi. 10.1111/andr.12882
- By:
- Publication type:
- Article
Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma.
- Published in:
- Oncogene, 2005, v. 24, n. 25, p. 4155, doi. 10.1038/sj.onc.1208578
- By:
- Publication type:
- Article
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1145, doi. 10.1038/sj.ejhg.5201891
- By:
- Publication type:
- Article
mtDNA haplogroup J: a contributing factor of optic neuritis.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 404, doi. 10.1038/sj.ejhg.5200293
- By:
- Publication type:
- Article
DRP1 haploinsufficiency attenuates cardiac ischemia/reperfusion injuries.
- Published in:
- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0248554
- By:
- Publication type:
- Article
Analyse biochimique multi-paramétrique révélant une augmentation de l'homocystéinémie et du NT-ProBNP chez les patients hypertendus à Bamako (Mali).
- Published in:
- Pan African Medical Journal, 2020, v. 35, p. 1, doi. 10.11604/pamj.2020.35.10.18821
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- Publication type:
- Article
Erratum to: Retinal metabolic events in preconditioning light stress as revealed by wide-spectrum targeted metabolomics.
- Published in:
- 2017
- By:
- Publication type:
- Erratum