Found: 15
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Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 755, doi. 10.1023/A:1005663804214
- By:
- Publication type:
- Article
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.
- Published in:
- 2013
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- Publication type:
- Letter
Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 11, p. 875, doi. 10.1007/s004150070076
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- Publication type:
- Article
Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.
- Published in:
- Acta Neurologica Scandinavica, 1998, v. 98, n. 5, p. 324, doi. 10.1111/j.1600-0404.1998.tb01742.x
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- Publication type:
- Article
Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
- Published in:
- Acta Neurologica Scandinavica, 1993, v. 87, n. 3, p. 219, doi. 10.1111/j.1600-0404.1993.tb04105.x
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- Publication type:
- Article
Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.
- Published in:
- 2007
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- Publication type:
- journal article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
- Published in:
- 2002
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- Publication type:
- journal article
Clinical and molecular features of mitochondrial DNA depletion syndromes.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 143, doi. 10.1007/s10545-008-1038-z
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- Publication type:
- Article
A Cluster Randomised Trial of a Multifaceted Quality Improvement Intervention in Brazilian Intensive Care Units.
- Published in:
- Intensive Care Medicine Experimental, 2015, v. 3, p. 1, doi. 10.1186/2197-425X-3-S1-A24
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- Publication type:
- Article
Epidemiology of sepsis in brazilian icus: a nationwide stratified sample.
- Published in:
- 2015
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- Publication type:
- Abstract
Ethanol Sensitization during Adolescence or Adulthood Induces Different Patterns of Ethanol Consumption without Affecting Ethanol Metabolism.
- Published in:
- Frontiers in Behavioral Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fnbeh.2017.00046
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- Publication type:
- Article
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
- Published in:
- 2001
- By:
- Publication type:
- journal article
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Glomerular hyperfiltration and renal disease progression in type 2 diabetes.
- Published in:
- 2012
- By:
- Publication type:
- journal article