Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13
dc.contributor.author | Subramony, S H | |
dc.contributor.author | Advincula, Joel | |
dc.contributor.author | Perlman, Susan | |
dc.contributor.author | Rosales, Raymond L. | |
dc.contributor.author | Lee, Lillian V. | |
dc.contributor.author | Ashizawa, Tetsuo | |
dc.contributor.author | Waters, Michael F. | |
dc.date.accessioned | 2024-04-25T06:05:02Z | |
dc.date.available | 2024-04-25T06:05:02Z | |
dc.date.issued | 2013-08-03 | |
dc.identifier.citation | Subramony, S., Advincula, J., Perlman, S. et al. Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13. Cerebellum 12, 932–936 (2013). https://doi.org/10.1007/s12311-013-0507-6. | en |
dc.identifier.issn | 1473-4222 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14353/360 | |
dc.description.abstract | 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 mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. | en |
dc.language.iso | en | en |
dc.publisher | SPRINGER | en |
dc.relation.uri | en | |
dc.subject | Ataxia | en |
dc.subject | Neurodegeneration | en |
dc.subject | Neurogenetics | en |
dc.subject | Spinocerebellar ataxia type 13 | en |
dc.subject | Voltage-gated potassium channel | en |
dc.subject | Ataxic syndrome | en |
dc.subject | Cognitive assessment | en |
dc.subject | KCNC3 coding | en |
dc.subject | p.Phe448Lys | en |
dc.subject | p.Arg420 | en |
dc.subject | Developmental phenotype | en |
dc.subject | Neurodegenerative phenotype | en |
dc.subject.lcsh | Cerebellar ataxia | en |
dc.subject.lcsh | Phenotype | en |
dc.subject.lcsh | Epilepsy | en |
dc.subject.lcsh | Intellectual disability | en |
dc.subject.lcsh | Ataxia | en |
dc.subject.lcsh | Articulation disorders | en |
dc.subject.lcsh | Neural conduction | en |
dc.subject.lcsh | cerebral | en |
dc.subject.mesh | Spinocerebellar Ataxias | en |
dc.subject.mesh | Ataxia | en |
dc.subject.mesh | Mutation | en |
dc.subject.mesh | Cerebellar Ataxia | en |
dc.subject.mesh | Dysarthria | en |
dc.subject.mesh | Alleles | en |
dc.subject.mesh | Nerve Conduction Studies | en |
dc.title | Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13 | en |
dc.type | Article | en |
dcterms.accessRights | Open access | en |
dc.citation.journaltitle | Cerebellum | en |
dc.citation.volume | 12 | en |
dc.citation.issue | 6 | en |
dc.citation.firstpage | 932 | en |
dc.citation.lastpage | 936 | en |
dc.identifier.doi | 10.1007/s12311-013-0507-6 | |
local.isIndexedBy | Scopus | en |
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