Publication
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
| dc.contributor.author | Brás, JM | |
| dc.contributor.author | Guerreiro, RJ | |
| dc.contributor.author | Ribeiro, MH | |
| dc.contributor.author | Januário, C | |
| dc.contributor.author | Morgadinho, A | |
| dc.contributor.author | Oliveira, CR | |
| dc.contributor.author | Hardy, J | |
| dc.contributor.author | Singleton, A | |
| dc.date.accessioned | 2009-02-18T17:38:39Z | |
| dc.date.available | 2009-02-18T17:38:39Z | |
| dc.date.issued | 2005 | |
| dc.description.abstract | LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. | en |
| dc.identifier.citation | Mov Disord. 2005 Dec;20(12):1653-5 | en |
| dc.identifier.uri | http://hdl.handle.net/10400.4/464 | |
| dc.language.iso | eng | en |
| dc.rights.uri | openAccess | en |
| dc.subject | Predisposição Genética para Doença | en |
| dc.subject | Doença de Parkinson | en |
| dc.subject | Mutação | en |
| dc.title | G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. | en |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.type | article | en |