Detalhe da pesquisa
1.
Endothelial NO synthase 786T/T polymorphism increases hemorrhagic transformation after endovascular thrombectomy.
Nitric Oxide
; 129: 8-15, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067953
2.
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Mov Disord
; 34(12): 1851-1863, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660654
3.
Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study.
Mov Disord
; 33(11): 1809-1813, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423201
4.
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Hum Mol Genet
; 24(24): 7111-20, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427606
5.
Tau/α-synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study.
Mov Disord
; 32(7): 1066-1073, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548309
6.
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.
J Neuroinflammation
; 13(1): 295, 2016 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863501
7.
DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease.
Mov Disord
; 31(3): 335-43, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686514
8.
Alzheimer's disease cerebrospinal fluid biomarker in cognitively normal subjects.
Brain
; 138(Pt 9): 2701-15, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220940
9.
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
J Hum Genet
; 60(10): 637-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26134514
10.
Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.
Mov Disord
; 29(6): 750-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357540
11.
The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.
Cell Mol Life Sci
; 70(1): 121-36, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773119
12.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
Hum Mutat
; 34(1): 79-82, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936364
13.
Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.
Mov Disord
; 28(12): 1737-40, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712608
14.
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Hum Genet
; 131(3): 435-42, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21912879
15.
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
Mov Disord
; 26(11): 2026-31, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21611983
16.
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Brain
; 138(Pt 12): e400, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26152333
17.
A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.
Front Neurol
; 12: 635396, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763016
18.
Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Mov Disord
; 25(14): 2340-5, 2010 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20721916
19.
Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
Mov Disord
; 24(13): 1998-2001, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19735093
20.
Progressive changes in non-coding RNA profile in leucocytes with age.
Aging (Albany NY)
; 9(4): 1202-1218, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448962