Detalhe da pesquisa
1.
NPHP4 variants are associated with pleiotropic heart malformations.
Circ Res
; 110(12): 1564-74, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22550138
2.
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Eur J Hum Genet
; 14(3): 322-31, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16333314
3.
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Lancet
; 365(9457): 412-5, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-15680456
4.
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Eur J Hum Genet
; 13(1): 59-68, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15483652
5.
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.
Parkinsonism Relat Disord
; 11(8): 521-2, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16256409
6.
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics
; 8(2): 103-9, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17219214
7.
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
Neurogenetics
; 7(1): 13-9, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16328510
8.
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.
Neurogenetics
; 7(3): 133-8, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16633828
9.
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.
Ann Neurol
; 56(3): 427-31, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15349871