Found: 87
Select item for more details and to access through your institution.
Ovarian ageing: the role of mitochondria in oocytes and follicles.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 365, doi. 10.1111/jns.12192
- By:
- Publication type:
- Article
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40797-7
- By:
- Publication type:
- Article
Iron Deficiency without Anemia Decreases Physical Endurance and Mitochondrial Complex I Activity of Oxidative Skeletal Muscle in the Mouse.
- Published in:
- Nutrients, 2021, v. 13, n. 4, p. 1056, doi. 10.3390/nu13041056
- By:
- 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
Detection of Low Levels of the Mitochondrial tRNA<sup>Leu(UUR)</sup> 3243A>G Mutation in Blood Derived from Patients with Diabetes.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 6, p. 381, doi. 10.1007/BF03256215
- By:
- Publication type:
- Article
Bioenergetic defect associated with mK<sub>ATP</sub> channel opening in a mouse model carrying a mitofusin 2 mutation.
- Published in:
- FASEB Journal, 2011, v. 25, n. 5, p. 1618, doi. 10.1096/fj.10-173609
- By:
- Publication type:
- Article
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease.
- Published in:
- Neurogenetics, 2010, v. 11, n. 1, p. 127, doi. 10.1007/s10048-009-0207-z
- By:
- Publication type:
- Article
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 145, doi. 10.1007/s10048-008-0166-9
- By:
- Publication type:
- Article
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29972-9
- By:
- Publication type:
- Article
Friedreich ataxia: the oxidative stress paradox.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 4, p. 463, doi. 10.1093/hmg/ddi042
- By:
- Publication type:
- Article
Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1344891
- By:
- Publication type:
- Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 528, doi. 10.1038/ejhg.2012.202
- By:
- Publication type:
- 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
- By:
- Publication type:
- journal article
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 4, p. n/a, doi. 10.1002/brb3.669
- By:
- Publication type:
- Article
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1202, doi. 10.3390/genes13071202
- 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
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627
- By:
- Publication type:
- Article
Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?
- Published in:
- Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 2, p. 221, doi. 10.1007/s10815-013-0141-8
- By:
- Publication type:
- Article
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445
- By:
- Publication type:
- Article
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.685532
- By:
- Publication type:
- Article
Expanding the phenotype of DNAJC30‐associated Leigh syndrome.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 438, doi. 10.1111/cge.14196
- By:
- Publication type:
- Article
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
- Published in:
- Bioscience Reports, 2022, v. 42, n. 9, p. 1, doi. 10.1042/BSR20220194
- By:
- Publication type:
- Article
Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
- Published in:
- Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 28, doi. 10.1684/abc.2021.1621
- By:
- Publication type:
- Article
Dual effects of resveratrol on arterial damage induced by insulin resistance in aged mice.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Dual Effects of Resveratrol on Arterial Damage Induced By Insulin Resistance in Aged Mice.
- Published in:
- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2014, v. 69A, n. 3, p. 260, doi. 10.1093/gerona/glt081
- By:
- Publication type:
- Article
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
- Published in:
- 2023
- By:
- Publication type:
- Case Study
BDNF Val66Met Polymorphism Influences Motor System Function in the Human Brain.
- Published in:
- Cerebral Cortex, 2010, v. 20, n. 5, p. 1254, doi. 10.1093/cercor/bhp189
- By:
- 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
- By:
- Publication type:
- Article
Succinate Dehydrogenase Is a Direct Target of Sirtuin 3 Deacetylase Activity.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023295
- By:
- 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
- By:
- Publication type:
- Article
Dominant optic atrophy.
- Published in:
- 2012
- By:
- 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
- By:
- Publication type:
- Article
Changes in Gene Expression After Exposing Arabidopsis thaliana Plants to Nanosecond High Amplitude Electromagnetic Field Pulses.
- Published in:
- Bioelectromagnetics, 2024, v. 45, n. 1, p. 4, doi. 10.1002/bem.22475
- By:
- Publication type:
- Article
Mitochondrial DNA copy number as a prognostic marker is age-dependent in adult glioblastoma.
- Published in:
- Neuro-Oncology Advances, 2022, v. 4, n. 1, p. 1, doi. 10.1093/noajnl/vdab191
- By:
- Publication type:
- Article
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.
- Published in:
- Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01852-y
- By:
- Publication type:
- Article
Membrane estrogen receptor alpha (ERα) participates in flow- mediated dilation in a ligand- independent manner.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.68695
- By:
- Publication type:
- Article
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91631-3
- By:
- Publication type:
- Article
Is ABCC6 a genuine mitochondrial protein?
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-427
- By:
- Publication type:
- Article
Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
- Published in:
- Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00431-w
- By:
- Publication type:
- Article
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.
- Published in:
- Biological Chemistry, 2010, v. 391, n. 10, p. 1115, doi. 10.1515/BC.2010.125
- By:
- Publication type:
- Article
Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: Toward a human mitochondrial proteome.
- Published in:
- Electrophoresis, 1998, v. 19, n. 6, p. 1006, doi. 10.1002/elps.1150190616
- By:
- Publication type:
- Article
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E692, doi. 10.1002/humu.21025
- By:
- Publication type:
- Article
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.
- Published in:
- 2009
- By:
- Publication type:
- Other
Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
- Published in:
- Human Mutation, 2005, v. 25, n. 6, p. 575, doi. 10.1002/humu.20177
- By:
- Publication type:
- Article
Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV.
- Published in:
- Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081786
- By:
- Publication type:
- Article
Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction.
- Published in:
- Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01292
- By:
- Publication type:
- Article