Detalhe da pesquisa
1.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474918
2.
Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.
EMBO Rep
; 25(1): 254-285, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177910
3.
α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay.
Ann Neurol
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546204
4.
Exercise therapy for chronic symptomatic peripheral artery disease.
Eur Heart J
; 45(15): 1303-1321, 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461405
5.
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Neurogenetics
; 25(2): 141-147, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498291
6.
Basal Ganglia Atrophy as a Marker for Prodromal X-Linked Dystonia-Parkinsonism.
Ann Neurol
; 93(5): 999-1011, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646669
7.
Rethinking Movement Disorders.
Mov Disord
; 39(3): 472-484, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196315
8.
Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.
Mov Disord
; 39(1): 6-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921246
9.
Transitioning from Subtyping to Precision Medicine in Parkinson's Disease: A Purpose-Driven Approach.
Mov Disord
; 39(3): 462-471, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243775
10.
Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.
Mov Disord
; 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616406
11.
ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.
Mov Disord
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469933
12.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
13.
Exercise Therapy for Chronic Symptomatic Peripheral Artery Disease: A Clinical Consensus Document of the European Society of Cardiology Working Group on Aorta and Peripheral Vascular Diseases in Collaboration With the European Society of Vascular Medicine and the European Society for Vascular Surgery.
Eur J Vasc Endovasc Surg
; 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467522
14.
Estimates of protection levels against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season: the IMMUNEBRIDGE project.
Infection
; 52(1): 139-153, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37530919
15.
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Brain
; 146(3): 1075-1082, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481544
16.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
; 146(7): 2753-2765, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478228
17.
Parkin and PINK1 mitigate STING-induced inflammation.
Nature
; 561(7722): 258-262, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135585
18.
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet
; 60(4): 352-358, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002240
19.
Ceramide accumulation induces mitophagy and impairs ß-oxidation in PINK1 deficiency.
Proc Natl Acad Sci U S A
; 118(43)2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686591
20.
Exercise therapy for chronic symptomatic peripheral artery disease.
Vasa
; 53(2): 87-108, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461401