Found: 19
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O234. Mitochondrial ageing and antiretroviral therapy exposure.
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Analysis of spectrum and frequencies of mutations in McArdle disease.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 6, p. 797, doi. 10.1007/s00415-006-0447-x
- By:
- Publication type:
- Article
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 1, p. 26, doi. 10.1111/nan.12634
- By:
- Publication type:
- Article
Peptide nucleic acid and delivery to human mitochondria.
- Published in:
- 2000
- By:
- Publication type:
- Erratum
Peptide nucleic acid delivery to human mitochondria.
- Published in:
- Gene Therapy, 1999, v. 6, n. 12, p. 1919, doi. 10.1038/sj.gt.3301061
- By:
- Publication type:
- Article
Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e230, doi. 10.1093/brain/aws279
- By:
- Publication type:
- Article
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
- Published in:
- Brain: A Journal of Neurology, 1997, v. 120, n. 10, p. 1713, doi. 10.1093/brain/120.10.1713
- By:
- Publication type:
- Article
Inheritance of mitochondrial DNA in humans: implications for rare and common diseases.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Enhanced reticulospinal output in patients with (<i>REEP1</i>) hereditary spastic paraplegia type 31.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Treatment strategies for inherited optic neuropathies: past, present and future.
- Published in:
- Eye, 2014, v. 28, n. 5, p. 521, doi. 10.1038/eye.2014.37
- By:
- Publication type:
- Article
Treatment strategies for inherited optic neuropathies: past, present and future.
- Published in:
- Eye, 2014, v. 28, n. 3, p. 521, doi. 10.1038/eye.2014.37
- By:
- Publication type:
- Article
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
- Published in:
- Eye, 2011, v. 25, n. 5, p. 596, doi. 10.1038/eye.2011.2
- By:
- Publication type:
- Article
Assessment of visual function in chronic progressive external ophthalmoplegia.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Mitochondrial diabetes: investigation and identification of a novel mutation.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?
- Published in:
- European Journal of Ophthalmology, 2008, v. 18, n. 2, p. 309, doi. 10.1177/112067210801800225
- By:
- Publication type:
- Article
The epidemiology of pathogenic mitochondrial DNA mutations.
- Published in:
- 2000
- By:
- Publication type:
- journal article
A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 3, p. 408, doi. 10.1002/ana.410410319
- By:
- Publication type:
- Article
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 3, p. 459, doi. 10.1002/ana.410400318
- By:
- Publication type:
- Article