Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
3.
Alternating Magnetic Field-Promoted Nanoparticle Mixing: The On-Chip Immunocapture of Serum Neuronal Exosomes for Parkinson's Disease Diagnostics.
Anal Chem
; 95(20): 7906-7913, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167073
4.
Initiation and progression of α-synuclein pathology in Parkinson's disease.
Cell Mol Life Sci
; 79(4): 210, 2022 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347432
5.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
6.
Validation of α-Synuclein in L1CAM-Immunocaptured Exosomes as a Biomarker for the Stratification of Parkinsonian Syndromes.
Mov Disord
; 36(11): 2663-2669, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33826157
7.
Facile Impedimetric Analysis of Neuronal Exosome Markers in Parkinson's Disease Diagnostics.
Anal Chem
; 92(20): 13647-13651, 2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945162
8.
Serum neuronal exosomes predict and differentiate Parkinson's disease from atypical parkinsonism.
J Neurol Neurosurg Psychiatry
; 91(7): 720-729, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32273329
9.
How is alpha-synuclein cleared from the cell?
J Neurochem
; 150(5): 577-590, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069800
10.
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
Ann Neurol
; 83(5): 915-925, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604226
11.
Methodological considerations in neuronal extracellular vesicle isolation for α-synuclein biomarkers.
Brain
; 146(11): e95-e97, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224515
12.
Deubiquitinase Usp8 regulates α-synuclein clearance and modifies its toxicity in Lewy body disease.
Proc Natl Acad Sci U S A
; 113(32): E4688-97, 2016 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27444016
13.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650884
14.
Convergent molecular defects underpin diverse neurodegenerative diseases.
J Neurol Neurosurg Psychiatry
; 89(9): 962-969, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459380
15.
Concentration-Normalized Electroanalytical Assaying of Exosomal Markers.
Anal Chem
; 89(5): 3184-3190, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192902
16.
Neurodegenerative diseases in the era of targeted therapeutics: how to handle a tangled issue.
Mol Cell Neurosci
; 66(Pt A): 1-2, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749373
17.
The endosomal pathway in Parkinson's disease.
Mol Cell Neurosci
; 66(Pt A): 21-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701813
18.
Enhanced ubiquitin-dependent degradation by Nedd4 protects against α-synuclein accumulation and toxicity in animal models of Parkinson's disease.
Neurobiol Dis
; 64: 79-87, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24388974
19.
Ubiquitin ligase Nedd4 promotes alpha-synuclein degradation by the endosomal-lysosomal pathway.
Proc Natl Acad Sci U S A
; 108(41): 17004-9, 2011 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953697
20.
Neuronally Derived Extracellular Vesicle α-Synuclein as a Serum Biomarker for Individuals at Risk of Developing Parkinson Disease.
JAMA Neurol
; 81(1): 59-68, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38048087