| http://purl.uniprot.org/citations/23786967 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23786967 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23786967 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jns.2013.05.018"xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jns.2013.05.018"xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Doi K."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Doi K."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Ichikawa Y."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Ichikawa Y."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Kobayashi S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Kobayashi S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Takahashi Y."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Takahashi Y."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Tsuji S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Tsuji S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Morishita S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Morishita S."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Goto J."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Goto J."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Mitsui J."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Mitsui J."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Kanazawa I."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Kanazawa I."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Ishiura H."xsd:string |
| http://purl.uniprot.org/citations/23786967 | http://purl.uniprot.org/core/author | "Ishiura H."xsd:string |