Publication
Unverricht–lundborg disease: report of a new mutation
| dc.contributor.author | Freitas, Joel | |
| dc.contributor.author | Pinto, Eugénia | |
| dc.contributor.author | Duarte, A.J. | |
| dc.contributor.author | Amaral, Olga | |
| dc.contributor.author | Chaves, Joao | |
| dc.contributor.author | Lopes-Lima, J. | |
| dc.date.accessioned | 2012-03-14T15:04:53Z | |
| dc.date.available | 2012-03-14T15:04:53Z | |
| dc.date.issued | 2011-08 | |
| dc.description | AJD e DR: bolseiros FCT. | por |
| dc.description.abstract | P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease. | por |
| dc.description.sponsorship | Financial support: FCT-PIC/IC/82822/2007 | por |
| dc.identifier.citation | Epilepsia. 2011;52(Suppl. 6):97 | por |
| dc.identifier.issn | 0013-9580 | |
| dc.identifier.other | doi: 10.1111/j.1528-1167.2011.03207.x | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/761 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Wiley-Blackwell | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2011.03207.x/pdf | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Genetic Disease | por |
| dc.subject | Epilepsy | por |
| dc.title | Unverricht–lundborg disease: report of a new mutation | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT | |
| oaire.citation.conferencePlace | Roma, Itália | por |
| oaire.citation.startPage | 97 | por |
| oaire.citation.title | 29th International Epilepsy Congress, 28 August–1 September 2011 | por |
| oaire.fundingStream | 5646-ICCMS | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |
| relation.isProjectOfPublication | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 | |
| relation.isProjectOfPublication.latestForDiscovery | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 |