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Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish.
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- Journal of Neuroscience, 2011, v. 31, n. 18, p. 6831, doi. 10.1523/JNEUROSCI.6572-10.2011
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- Article
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056
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- Article
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
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- Nature Genetics, 2006, v. 38, n. 4, p. 447, doi. 10.1038/ng1758
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Multiple potassium-channel components are produced by alternative splicing at the shaker locus in Drosophila.
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- Nature, 1988, v. 332, n. 6166, p. 740, doi. 10.1038/332740a0
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- Article
Multiple potassium-channel components are produced by alternative splicing at the Shaker locus in Drosophila.
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- Nature, 1988, v. 331, n. 6152, p. 137, doi. 10.1038/331137a0
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- Article
Expression of functional potassium channels from Shaker cDNA in Xenopus oocytes.
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- Nature, 1988, v. 331, n. 6152, p. 143, doi. 10.1038/331143a0
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- Article
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
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- Journal of Physiology, 2012, v. 590, n. 7, p. 1599, doi. 10.1113/jphysiol.2012.228205
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- Article
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13).
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017811
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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
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- Human Mutation, 2010, v. 31, n. 2, p. 191, doi. 10.1002/humu.21165
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Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.
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- Human Mutation, 2022, v. 43, n. 9, p. 1286, doi. 10.1002/humu.24396
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- Article
Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish.
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- Frontiers in Neural Circuits, 2014, v. 8, p. 1, doi. 10.3389/fncir.2014.00147
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- Article
Voltage sensor mutations differentially target misfolded K<sup>+</sup> channel subunits to proteasomal and non-proteasomal disposal pathways
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- FEBS Letters, 2004, v. 568, n. 1-3, p. 110, doi. 10.1016/j.febslet.2004.05.023
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- Article
Critical assessment of a proposed model of Shaker
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- FEBS Letters, 2004, v. 564, n. 3, p. 257, doi. 10.1016/S0014-5793(04)00273-X
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- Article
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels.
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- BMC Neuroscience, 2010, v. 11, p. 99, doi. 10.1186/1471-2202-11-99
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- Article