Detalhe da pesquisa
1.
Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.
EMBO Rep
; 25(1): 254-285, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38177910
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
Inglês
| MEDLINE | ID: mdl-38546204
3.
Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism.
Mov Disord
; 37(11): 2284-2289, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35971992
4.
Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation.
Mov Disord
; 37(7): 1405-1415, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35460111
5.
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
Inglês
| MEDLINE | ID: mdl-34637165
6.
Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in ß-Propeller Protein-Associated Neurodegeneration.
Int J Mol Sci
; 23(17)2022 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-36076926
7.
Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
Int J Mol Sci
; 23(4)2022 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35216353
8.
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Ann Neurol
; 85(6): 812-822, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30973967
9.
Dichloroacetate prevents restenosis in preclinical animal models of vessel injury.
Nature
; 509(7502): 641-4, 2014 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-24747400
10.
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
Inglês
| MEDLINE | ID: mdl-28379402
11.
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Brain
; 141(10): 3052-3064, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30169597
12.
Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells.
Int J Mol Sci
; 20(3)2019 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30754623
13.
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Hum Mutat
; 39(12): 1901-1915, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30079973
14.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Am J Hum Genet
; 96(2): 245-57, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25597510
15.
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
Mov Disord
; 33(7): 1108-1118, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30153385
16.
Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Hum Mol Genet
; 28(7): 1225, 2019 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30517638
17.
Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.
Brain
; 143(1): e1, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31754706
18.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochim Biophys Acta
; 1839(11): 1196-204, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25088175
19.
iPS models of Parkin and PINK1.
Biochem Soc Trans
; 43(2): 302-7, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25849934
20.
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Hum Mutat
; 40(12): 2444, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31758849