Found: 21
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'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Hypotonic Medium-Activated Chloride Transport in Human Skin Fibroblasts.
- Published in:
- Annals of the New York Academy of Sciences, 1989, v. 574, n. 1, p. 60, doi. 10.1111/j.1749-6632.1989.tb25135.x
- By:
- Publication type:
- Article
Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 4, p. 351, doi. 10.3390/life11040351
- By:
- Publication type:
- Article
Apoptotic Cell Death of Cybrid Cells Bearing Leber's Hereditary Optic Neuropathy Mutations Is Caspase Independent.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1010, n. 1, p. 213, doi. 10.1196/annals.1299.037
- By:
- Publication type:
- Article
Coenzyme Q biosynthesis inhibition induces HIF‐1α stabilization and metabolic switch toward glycolysis.
- Published in:
- FEBS Journal, 2021, v. 288, n. 6, p. 1956, doi. 10.1111/febs.15561
- By:
- Publication type:
- Article
Reactive Oxygen Species Produced by Mutated Mitochondrial Respiratory Chains of Entire Cells Monitored Using Modified Microelectrodes.
- Published in:
- ChemElectroChem, 2019, v. 6, n. 3, p. 627, doi. 10.1002/celc.201801424
- By:
- Publication type:
- Article
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 352, doi. 10.1093/brain/awm335
- By:
- Publication type:
- Article
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA 1 missense mutations.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410
- By:
- Publication type:
- Article
Calcium ion transport in higher plant mitochondria (Helianthus tuberosus).
- Published in:
- Physiologia Plantarum, 1990, v. 79, n. 2 Part 1, p. 297, doi. 10.1111/j.1399-3054.1990.tb06745.x
- By:
- Publication type:
- Article
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3631, doi. 10.1093/hmg/ddaa244
- By:
- Publication type:
- Article
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1319, doi. 10.1093/hmg/ddaa047
- By:
- Publication type:
- Article
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1453, doi. 10.1093/hmg/ddt533
- By:
- Publication type:
- Article
The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2141, doi. 10.1093/hmg/ddt067
- By:
- Publication type:
- Article
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
- By:
- Publication type:
- Article
Magnesium Transport by Brain Mitochondria: Energy Requirement and Dependence on Ca<sup>2+</sup> Fluxes.
- Published in:
- Journal of Neurochemistry, 1984, v. 42, n. 4, p. 1127, doi. 10.1111/j.1471-4159.1984.tb12720.x
- By:
- Publication type:
- Article
A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596
- By:
- Publication type:
- Article
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 391, doi. 10.1002/humu.20870
- By:
- Publication type:
- Article
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30143-z
- By:
- Publication type:
- Article
The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1019, doi. 10.1093/hmg/ddp566
- By:
- Publication type:
- Article