Found: 23
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Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 3, p. 489, doi. 10.3390/cells11030489
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- Publication type:
- Article
Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich’s ataxia fibroblasts.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190495
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- Publication type:
- Article
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
High-dose statins and skeletal muscle metabolism in humans: A randomized, controlled trial
- Published in:
- Clinical Pharmacology & Therapeutics, 2005, v. 78, n. 1, p. 60, doi. 10.1016/j.clpt.2005.03.006
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
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- Publication type:
- Article
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 41, doi. 10.1038/ejhg.2014.49
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- Publication type:
- Article
Nanoscopic X‐ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients.
- Published in:
- Journal of Synchrotron Radiation, 2020, v. 27, n. 1, p. 185, doi. 10.1107/S1600577519015510
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- Publication type:
- Article
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013
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- Publication type:
- Article
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
- Published in:
- Electrophoresis, 2009, v. 30, n. 20, p. 3565, doi. 10.1002/elps.200900213
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- Publication type:
- Article
Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two-dimensional blue-native polyacrylamide gel electrophoresis.
- Published in:
- Electrophoresis, 2002, v. 23, n. 15, p. 2525, doi. 10.1002/1522-2683(200208)23:15<2525::AID-ELPS2525>3.0.CO;2-I
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- Publication type:
- Article
Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function.
- Published in:
- EMBO Molecular Medicine, 2009, v. 1, n. 2, p. 99, doi. 10.1002/emmm.200900006
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- Publication type:
- Article
A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112950
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- Publication type:
- Article
Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis.
- Published in:
- Clinical Infectious Diseases, 2006, v. 42, n. 8, p. 1111, doi. 10.1086/501356
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1147, doi. 10.1007/s10545-015-9857-1
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- Publication type:
- Article
TMEM70 deficiency: long-term outcome of 48 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8
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- Publication type:
- Article
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
- Published in:
- 2015
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- Publication type:
- Erratum
Complex III staining in blue native polyacrylamide gels.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 741, doi. 10.1007/s10545-011-9315-7
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- Publication type:
- Article
Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 2, p. 267, doi. 10.1007/s00431-014-2370-y
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- Publication type:
- Article
Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 55, doi. 10.1007/s10545-009-9020-y
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- Publication type:
- Article
Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.
- Published in:
- Phytotherapy Research, 2014, v. 28, n. 2, p. 312, doi. 10.1002/ptr.4988
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- Publication type:
- Article
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-t RNA Synthetase ( NARS2).
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 222, doi. 10.1002/humu.22728
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- Publication type:
- Article
Proteomic analysis in giant axonal neuropathy: New insights into disease mechanisms.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 2, p. 246, doi. 10.1002/mus.23306
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- Publication type:
- Article
Unraveling the Mechanisms Behind the Enhanced MTT Conversion by Irradiated Breast Cancer Cells.
- Published in:
- Radiation Research, 2013, v. 179, n. 4, p. 433, doi. 10.1667/RR3070.1
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- Publication type:
- Article