Found: 5
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Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4089, doi. 10.1093/hmg/ddp358
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- Publication type:
- Article
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1590, doi. 10.1093/hmg/ddp074
- By:
- Publication type:
- Article
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
- Published in:
- Journal of Neurology, 2011, v. 258, n. 8, p. 1437, doi. 10.1007/s00415-011-5953-9
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- Publication type:
- Article
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 9, p. 1517, doi. 10.1007/s00415-010-5565-9
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- Publication type:
- Article
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
- Published in:
- 2014
- By:
- Publication type:
- Other