Detalhe da pesquisa
1.
Expansion of Pathogenic Cardiac Macrophages in Immune Checkpoint Inhibitor Myocarditis.
Circulation
; 149(1): 48-66, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746718
2.
Transcriptional and Immune Landscape of Cardiac Sarcoidosis.
Circ Res
; 131(8): 654-669, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111531
3.
CCL17 Aggravates Myocardial Injury by Suppressing Recruitment of Regulatory T Cells.
Circulation
; 145(10): 765-782, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35113652
4.
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Hum Mutat
; 40(4): 392-403, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609140
5.
Identification of SLC20A2 deletions in patients with primary familial brain calcification.
Clin Genet
; 96(1): 53-60, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891739
6.
Expansion of Disease Specific Cardiac Macrophages in Immune Checkpoint Inhibitor Myocarditis.
bioRxiv
; 2023 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162929
7.
Defining cardiac functional recovery in end-stage heart failure at single-cell resolution.
Nat Cardiovasc Res
; 2(4): 399-416, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37583573
8.
Single-cell transcriptomics reveals cell-type-specific diversification in human heart failure.
Nat Cardiovasc Res
; 1(3): 263-280, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35959412
9.
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
Cell Discov
; 8(1): 128, 2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36443312
10.
Global burden of cardiovascular diseases attributable to hypertension in young adults from 1990 to 2019.
J Hypertens
; 39(12): 2488-2496, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34269332
11.
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
Front Genet
; 12: 732389, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34745211
12.
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Ann Clin Transl Neurol
; 7(10): 1862-1869, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32860341
13.
Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis.
Front Neurol
; 11: 570227, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193014
14.
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.
Natl Sci Rev
; 7(1): 92-101, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34691481
15.
SARS-CoV-2 Infects Human Engineered Heart Tissues and Models COVID-19 Myocarditis.
bioRxiv
; 2020 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173875
16.
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
Stem Cell Res
; 34: 101354, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611022
17.
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
J Mol Neurosci
; 65(2): 196-202, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29799103
18.
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Neuron
; 98(6): 1116-1123.e5, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29910000
19.
Base editing-mediated splicing correction therapy for spinal muscular atrophy.
Cell Res
; 30(6): 548-550, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32210360