| http://purl.uniprot.org/citations/23182804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23182804 | http://www.w3.org/2000/01/rdf-schema#comment | "Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are 2 adult onset neurological disorders with overlapping symptoms and clinical characteristics. It is well established that they share a common pathologic and genetic background. Recently, mutations in profilin 1 gene (PFN1) have been identified in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. Based on this, we hypothesized that mutations in PFN1 might also contribute to FTLD disease. We studied a French cohort of 165 ALS/FTLD patients, without finding any variant. We conclude that mutations in PFN1 are not a common cause for ALS/FTLD in France."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.neurobiolaging.2012.10.026"xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/author | "Le Ber I."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/author | "Camuzat A."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/author | "Kabashi E."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/author | "Lattante S."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/name | "Neurobiol Aging"xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/pages | "1709.e1-2"xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/title | "Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France."xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://purl.uniprot.org/core/volume | "34"xsd:string |
| http://purl.uniprot.org/citations/23182804 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23182804 |
| http://purl.uniprot.org/citations/23182804 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23182804 |
| http://purl.uniprot.org/uniprot/#_K7EJ44-mappedCitation-23182804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23182804 |
| http://purl.uniprot.org/uniprot/#_P07737-mappedCitation-23182804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23182804 |
| http://purl.uniprot.org/uniprot/P07737 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23182804 |
| http://purl.uniprot.org/uniprot/K7EJ44 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23182804 |