Detalhe da pesquisa
1.
Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
Ann Neurol
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767023
2.
α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay.
Ann Neurol
; 95(6): 1173-1177, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546204
3.
Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons.
Mov Disord
; 38(10): 1822-1836, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449534
4.
A Mendelian randomization study investigating the causal role of inflammation on Parkinson's disease.
Brain
; 145(10): 3444-3453, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35656776
5.
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
Ann Neurol
; 89(1): 158-164, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094862
6.
Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation.
Mov Disord
; 37(7): 1405-1415, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460111
7.
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Mov Disord
; 37(12): 2427-2439, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148898
8.
Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-ß-Cyclodextrin Treatment.
Mov Disord
; 37(1): 80-94, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637165
9.
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
Int J Mol Sci
; 23(4)2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216353
10.
Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation.
Mov Disord
; 36(1): 25-36, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314312
11.
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Mov Disord
; 36(6): 1381-1391, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547842
12.
Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.
Brain
; 143(6): 1746-1765, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516804
13.
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Int J Mol Sci
; 22(7)2021 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808167
14.
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Hum Mol Genet
; 26(13): 2412-2425, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379402
15.
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Brain
; 141(10): 3052-3064, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30169597
16.
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Hum Mutat
; 39(12): 1901-1915, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079973
17.
Neuron-Derived Misfolded α-Synuclein in Blood: A Potential Biomarker for Parkinson's Disease?
Mov Disord
; 38(3): 385, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718670
18.
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
Mov Disord
; 33(7): 1108-1118, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30153385
19.
Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease.
Mov Disord
; 36(1): 271-273, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492791
20.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochim Biophys Acta
; 1839(11): 1196-204, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25088175