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1.
Establishing gene regulatory networks from Parkinson's disease risk loci.
Brain;
145(7): 2422-2435, 2022 07 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35094046
2.
Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.
Mov Disord;
35(8): 1346-1356, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32557794
3.
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.
FASEB J;
33(11): 12264-12276, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31415180
4.
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.
Hum Mol Genet;
23(11): 2816-33, 2014 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24603074
5.
Intronic Haplotypes in GBA Modify Age at Diagnosis of Parkinson's: Replication in a Subgroup.
Mov Disord;
36(6): 1468-1470, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34002417
6.
Lysosomal-associated membrane protein 2 isoforms are differentially affected in early Parkinson's disease.
Mov Disord;
30(12): 1639-47, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25594542
7.
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Brain;
137(Pt 3): 834-48, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24477431
8.
Discovering genetic mechanisms underlying the co-occurrence of Parkinson's disease and non-motor traits.
NPJ Parkinsons Dis;
10(1): 27, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38263313
9.
Identification of 27 allele-specific regulatory variants in Parkinson's disease using a massively parallel reporter assay.
NPJ Parkinsons Dis;
10(1): 44, 2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38413607
10.
Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.
bioRxiv;
2024 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38496508
11.
Parkinson's disease: From genetics to molecular dysfunction and targeted therapeutic approaches.
Genes Dis;
10(3): 786-798, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37396535
12.
Evaluation of plasma levels of NFL, GFAP, UCHL1 and tau as Parkinson's disease biomarkers using multiplexed single molecule counting.
Sci Rep;
13(1): 5217, 2023 03 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36997567
13.
Redefining the hypotheses driving Parkinson's diseases research.
NPJ Parkinsons Dis;
8(1): 45, 2022 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35440633
14.
Single Molecule Fingerprinting Reveals Different Amplification Properties of α-Synuclein Oligomers and Preformed Fibrils in Seeding Assay.
ACS Chem Neurosci;
13(7): 883-896, 2022 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35286811
15.
Identifying robust and reliable volatile organic compounds in human sebum for biomarker discovery.
Anal Chim Acta;
1233: 340506, 2022 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36283785
16.
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Hum Mutat;
32(8): 956-64, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21542062
17.
Machine Learning Identifies Six Genetic Variants and Alterations in the Heart Atrial Appendage as Key Contributors to PD Risk Predictivity.
Front Genet;
12: 785436, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35047012
18.
Defining early changes in Alzheimer's disease from RNA sequencing of brain regions differentially affected by pathology.
Sci Rep;
11(1): 4865, 2021 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33649380
19.
Misfolded proteins traffic from the endoplasmic reticulum (ER) due to ER export signals.
Mol Biol Cell;
18(2): 455-63, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17108324
20.
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
J Cardiovasc Electrophysiol;
20(8): 923-30, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19490267