Detalhe da pesquisa
1.
Cell models of lipid-rich α-synuclein aggregation validate known modifiers of α-synuclein biology and identify stearoyl-CoA desaturase.
Proc Natl Acad Sci U S A
; 116(41): 20760-20769, 2019 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31548371
2.
Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.
Hum Mol Genet
; 26(18): 3466-3481, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911198
3.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
4.
Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation.
Stroke
; 49(8): 1977-1980, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986930
5.
Trib3 Is Elevated in Parkinson's Disease and Mediates Death in Parkinson's Disease Models.
J Neurosci
; 35(30): 10731-49, 2015 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224857
6.
The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.
J Neural Transm (Vienna)
; 123(6): 583-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27098667
7.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain
; 138(Pt 9): 2648-58, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117366
8.
ATF4 protects against neuronal death in cellular Parkinson's disease models by maintaining levels of parkin.
J Neurosci
; 33(6): 2398-407, 2013 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23392669
9.
Knowledge of and interest in genetic results among Parkinson disease patients and caregivers.
J Genet Couns
; 23(1): 114-20, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23748874
10.
The neuropathology of genetic Parkinson's disease.
Mov Disord
; 27(7): 831-42, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451330
11.
Cell death pathways in Parkinson's disease: proximal triggers, distal effectors, and final steps.
Apoptosis
; 14(4): 478-500, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165601
12.
Stress-induced phospho-ubiquitin formation causes parkin degradation.
Sci Rep
; 9(1): 11682, 2019 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406131
13.
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.
Eur J Med Genet
; 62(1): 65-69, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29842932
14.
Guanabenz promotes neuronal survival via enhancement of ATF4 and parkin expression in models of Parkinson disease.
Exp Neurol
; 303: 95-107, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432724
15.
Elevated GM3 plasma concentration in idiopathic Parkinson's disease: A lipidomic analysis.
PLoS One
; 12(2): e0172348, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28212433
16.
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease.
NPJ Parkinsons Dis
; 22016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27110593
17.
Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.
Mov Disord Clin Pract
; 5(2): 221-222, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746405
18.
Postural and Intention Tremors: A Detailed Clinical Study of Essential Tremor vs. Parkinson's Disease.
Front Neurol
; 4: 51, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23717300
19.
The "head snap": a subtle clinical feature during the finger-nose-finger maneuver in essential tremor.
Tremor Other Hyperkinet Mov (N Y)
; 32013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23724360
20.
Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.
Neurology
; 79(16): e135-9, 2012 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071170