Found: 22
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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 5, p. 3779, doi. 10.1007/s11033-020-05425-3
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- Publication type:
- Article
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.602979
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- Article
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 354, doi. 10.1111/cge.13603
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- Article
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2430, doi. 10.1002/humu.23885
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- Publication type:
- Article
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
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- Article
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
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- 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
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- Article
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure.
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071665
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- 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
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- 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
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- Article
Stable and Local Reservoirs of Mycobacterium ulcerans Inferred from the Nonrandom Distribution of Bacterial Genotypes, Benin.
- Published in:
- 2020
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- Publication type:
- journal article
High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma.
- Published in:
- Neuro-Oncology, 2019, v. 21, n. 8, p. 1084, doi. 10.1093/neuonc/noz072
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- Publication type:
- Article
Mitochondrial DNA Instability Is Common in HIV-Exposed Uninfected Newborns.
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- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2399, doi. 10.3390/jcm10112399
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- Article
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
- Published in:
- 2016
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- Publication type:
- journal 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
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- Publication type:
- Article
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
- Published in:
- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
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- 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
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- Publication type:
- Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
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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
Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 8, p. 5780, doi. 10.1007/s12035-019-1484-7
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- Publication type:
- Article
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-022-04303-x
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- Publication type:
- Article