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Energy Contribution of Octanoate to Intact Rat Brain Metabolism Measured by [sup13]C Nuclear Magnetic Resonance Spectroscopy.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 13, p. 5928, doi. 10.1523/JNEUROSCI.23-13-05928.2003
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- Article
Energy deficit in Huntington disease: why it matters.
- Published in:
- 2011
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- Publication type:
- journal article
Relative rates of anaplerotic flux in rested and contracted rat skeletal muscle measured by <sup>13</sup>C NMR spectroscopy.
- Published in:
- Journal of Physiology, 2003, v. 548, n. 2, p. 541, doi. 10.1111/j.1469-7793.2003.00541.x
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- Article
Role of 5′AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease.
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- Journal of Physiology, 2002, v. 541, n. 3, p. 979, doi. 10.1113/jphysiol.2002.018044
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- Article
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease.
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- Journal of Physiology, 2001, v. 537, n. 2, p. 641, doi. 10.1111/j.1469-7793.2001.00641.x
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- Publication type:
- Article
Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114462
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- Article
Reproducibility and Absolute Quantification of Muscle Glycogen in Patients with Glycogen Storage Disease by <sup>13</sup>C NMR Spectroscopy at 7 Tesla.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108706
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- Article
McArdle's disease presenting with asymmetric, late-onset arm weakness.
- Published in:
- 2000
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- Publication type:
- journal article
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65
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- Article
Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 53, doi. 10.1093/brain/awr293
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- Article
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 6, p. 1545, doi. 10.1093/brain/awp065
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- Article
Resistance training in patients with single, large-scale deletions of mitochondrial DNA.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2832, doi. 10.1093/brain/awn252
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- Article
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.
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- Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3391, doi. 10.1093/brain/awl282
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- Article
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.
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- Brain: A Journal of Neurology, 2003, v. 126, n. 2, p. 413, doi. 10.1093/brain/awg028
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- Article
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
- Published in:
- 2021
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- Publication type:
- journal article
No effect of triheptanoin on exercise performance in McArdle disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1949, doi. 10.1002/acn3.50863
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- Article
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
- Published in:
- 2020
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- Publication type:
- journal article
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
- Published in:
- 2018
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- Publication type:
- journal article
Aerobic conditioning: An effective therapy in McArdle's disease.
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- Annals of Neurology, 2006, v. 59, n. 6, p. 922
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- Article
A diagnostic cycle test for McArdle's disease.
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- Annals of Neurology, 2003, v. 54, n. 4, p. 539
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- Article
A nonischemic forearm exercise test for McArdle disease.
- Published in:
- 2002
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- Publication type:
- journal article
Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy.
- Published in:
- 2002
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- Publication type:
- journal article
Effect of perfusion on exercised muscle: MR imaging evaluation.
- Published in:
- 1992
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- Publication type:
- journal article
Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.
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- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5178, doi. 10.1093/hmg/ddw338
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- Publication type:
- Article
Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron–sulfur cluster depletion in human skeletal muscle.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 24, doi. 10.1093/hmg/ddt393
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- Article
Aberrant iron homeostasis, oxidative fiber enrichment, and activation of ketogenesis in muscle tissue of ISCU Myopathy patients.
- Published in:
- 2012
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- Publication type:
- Abstract
Dynamic monitoring of carnitine and acetylcarnitine in the trimethylamine signal after exercise in human skeletal muscle by 7T <sup>1</sup>H-MRS.
- Published in:
- Magnetic Resonance in Medicine, 2013, v. 69, n. 1, p. 7, doi. 10.1002/mrm.24249
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- Article
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
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- Human Molecular Genetics, 2009, v. 18, n. 17, p. 3194, doi. 10.1093/hmg/ddp257
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- Article
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects.
- Published in:
- 2001
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- Publication type:
- journal article
Muscle phosphoglycerate mutase deficiency with tubular aggregates: effect of dantrolene.
- Published in:
- 1999
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- Publication type:
- journal article
Exercise fuel mobilization in mitochondrial myopathy: A metabolic dilemma.
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- Annals of Neurology, 1996, v. 40, n. 4, p. 655, doi. 10.1002/ana.410400416
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- Article
Oxygen Utilization and delivery in metabolic my opathies.
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- Annals of Neurology, 1994, v. 36, n. 6, p. 811, doi. 10.1002/ana.410360603
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- Article
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
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- Annals of Neurology, 1994, v. 36, n. 4, p. 661, doi. 10.1002/ana.410360418
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- Publication type:
- Article
Myophosphorylase deficiency impairs muscle oxidative metabolism.
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- Annals of Neurology, 1985, v. 17, n. 2, p. 196, doi. 10.1002/ana.410170216
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- Publication type:
- Article
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-022-04303-x
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- Article
Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies.
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- Muscle & Nerve, 1989, v. 12, n. 10, p. 849, doi. 10.1002/mus.880121011
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- Article
Experimental acute alcoholic myopathy-a histochemical study.
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- Muscle & Nerve, 1985, v. 8, n. 3, p. 195, doi. 10.1002/mus.880080304
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- Publication type:
- Article