Found: 15
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TIPE2 gene transfer with adeno-associated virus 9 ameliorates dystrophic pathology in mdx mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1608, doi. 10.1093/hmg/ddz001
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- Publication type:
- Article
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1620, doi. 10.1093/hmg/ddz002
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- Article
Systemic investigation of bone and muscle abnormalities in dystrophin/utrophin double knockout mice during postnatal development and the mechanisms.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1738, doi. 10.1093/hmg/ddz012
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- Article
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1579, doi. 10.1093/hmg/ddy446
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- Article
Sex differences in gene expression in response to ischemia in the human left ventricular myocardium.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1682, doi. 10.1093/hmg/ddz014
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- Publication type:
- Article
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1694, doi. 10.1093/hmg/ddz007
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- Publication type:
- Article
The TFAP2A–IRF6–GRHL3 genetic pathway is conserved in neurulation.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1726, doi. 10.1093/hmg/ddz010
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- Publication type:
- Article
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1594, doi. 10.1093/hmg/ddy448
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- Publication type:
- Article
Mutant huntingtin expression in microglia is neither required nor sufficient to cause the Huntington's disease-like phenotype in BACHD mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1661, doi. 10.1093/hmg/ddz009
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- Publication type:
- Article
LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1645, doi. 10.1093/hmg/ddz004
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- Publication type:
- Article
Multifaceted Hoxa13 function in urogenital development underlies the Hand–Foot–Genital Syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1671, doi. 10.1093/hmg/ddz013
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- Publication type:
- Article
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1709, doi. 10.1093/hmg/ddz016
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- Publication type:
- Article
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1752, doi. 10.1093/hmg/ddz021
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- Article
Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1753, doi. 10.1093/hmg/ddz036
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- Publication type:
- Article
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1629, doi. 10.1093/hmg/ddz006
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- Publication type:
- Article