| http://purl.uniprot.org/citations/21107874 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21107874 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21107874 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C>G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10072-010-0445-8"xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10072-010-0445-8"xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Bassi M.T."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Bassi M.T."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Musumeci O."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Musumeci O."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Toscano A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Toscano A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Martinuzzi A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Martinuzzi A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Crimella C."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Crimella C."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Grandis M."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Grandis M."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Mazzeo A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/author | "Mazzeo A."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/name | "Neurol. Sci."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/name | "Neurol. Sci."xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/pages | "665-668"xsd:string |
| http://purl.uniprot.org/citations/21107874 | http://purl.uniprot.org/core/pages | "665-668"xsd:string |