Found: 22
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Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 463, doi. 10.1111/j.1749-6632.1999.tb08611.x
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- Article
Angiogenic Effects of Human Dental Pulp and Bone Marrow-Derived Mesenchymal Stromal Cells and their Extracellular Vesicles.
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- Cells (2073-4409), 2020, v. 9, n. 2, p. 312, doi. 10.3390/cells9020312
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- Article
Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy.
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- Journal of Neuroscience, 2011, v. 31, n. 43, p. 15320, doi. 10.1523/JNEUROSCI.3266-11.2011
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- Article
Mutant HSPB8 causes motor neuron-specific neurite degeneration.
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- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3254, doi. 10.1093/hmg/ddq234
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- Article
Molecular genetics of distal hereditary motor neuropathies.
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- Human Molecular Genetics, 2004, v. 13, n. 2, p. r195, doi. 10.1093/hmg/ddh226
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- Article
Molecular genetics of distal hereditary motor neuropathies.
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- Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R195, doi. 10.1093/hmg/ddh226
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- Article
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
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- Acta Neuropathologica, 2018, v. 135, n. 1, p. 131, doi. 10.1007/s00401-017-1756-0
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- Article
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.
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- Acta Neuropathologica, 2013, v. 126, n. 1, p. 93, doi. 10.1007/s00401-013-1133-6
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- Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
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- Nature Genetics, 2006, v. 38, n. 2, p. 197, doi. 10.1038/ng1727
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- Article
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
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- Nature Genetics, 2005, v. 37, n. 10, p. 1044, doi. 10.1038/ng1649
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- Article
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
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- Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
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- Article
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
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- Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
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- Article
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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- Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313
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- Article
Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles.
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- Cell Communication & Signaling, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12964-022-00863-x
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- Article
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
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- Journal of Extracellular Vesicles, 2020, v. 10, p. 1, doi. 10.1002/jev2.12022
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- Article
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis.
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- Journal of Extracellular Vesicles, 2020, v. 10, n. 1, p. 1, doi. 10.1002/jev2.12022
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- Article
Unraveling the genetics of distal hereditary motor neuronopathies.
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- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 131, doi. 10.1385/NMM:8:1-2:131
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- Article
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
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- Journal of the Peripheral Nervous System, 2002, v. 7, n. 2, p. 87, doi. 10.1046/j.1529-8027.2002.02014.x
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- Article
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
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- Human Mutation, 2007, v. 28, n. 8, p. 830, doi. 10.1002/humu.9503
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- Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
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- Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2124, doi. 10.1093/brain/awh232
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- Article
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease.
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- Nature Medicine, 2011, v. 17, n. 8, p. 968, doi. 10.1038/nm.2396
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- Article