Publication
Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy
| dc.contributor.author | Amaral, O. | |
| dc.contributor.author | Duarte, A. | |
| dc.contributor.author | Pinto, E. | |
| dc.contributor.author | Freitas, J. | |
| dc.contributor.author | Chaves, J. | |
| dc.date.accessioned | 2012-10-25T15:26:11Z | |
| dc.date.available | 2012-10-25T15:26:11Z | |
| dc.date.issued | 2012-02 | |
| dc.description | Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004343 | por |
| dc.description.abstract | Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1085 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.relation | FCT- PIC/IC/82822/2007 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Epilepsia | por |
| dc.subject | CSTB | por |
| dc.title | Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | San Diego, USA | por |
| oaire.citation.title | 8th Annual Research Meeting of the WORLD Symposium on Lysosomal Disease Networks, Feb 8-10 2012 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |