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Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 11, p. 3865, doi. 10.1523/JNEUROSCI.3679-11.2012
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- Publication type:
- Article
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1363, doi. 10.1093/hmg/ddu545
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- Publication type:
- Article
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl− co-transporter 3.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 17, p. 2703, doi. 10.1093/hmg/ddn172
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- Publication type:
- Article
A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 6, p. 652, doi. 10.1111/j.1469-1809.2009.00546.x
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- Article
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
- Published in:
- 2008
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- Publication type:
- journal article
Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition.
- Published in:
- Science Signaling, 2016, v. 9, n. 421, p. 1, doi. 10.1126/scisignal.aad0163
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- Publication type:
- Article