Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13R420H
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www.ncbi.nlm.nih.govDate
2012-09-11Author
MeSH term
Spinocerebellar DegenerationsNucleic Acids
Shaw Potassium Channels
Phonetics
Dysarthria
Epilepsy
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Waters, M. F., Subramony, S. H., Advincula, J., Perlman, S., & Ashizawa, T. (2012). Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13R420H.Type
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283-878Keywords
Nucleic acid binding protein Spinocerebellar ataxia type 13 protein Unclassified drug Voltage gated potassium channel KCNC3 protein, human Shaw potassium channel Allele Clinical protocol Dysarthria Epilepsy Filipino Gene mutation Genotype Human In vitro study Mental deficiency Note Oculomotor system Phenotype Priority journal Spinocerebellar ataxia type 13 Spinocerebellar degeneration Visual system Wild type Aged Article Child Eye movement Genetics Middle aged Phenotype Shaw Potassium Channels
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Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13
Subramony, S H ; Advincula, Joel; Perlman, Susan; Rosales, Raymond L.; Lee, Lillian V.; Ashizawa, Tetsuo ; Waters, Michael F. (SPRINGER, 2013-08-03)The p.Arg420H is allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent ...