Detalhe da pesquisa
1.
FHL1 is a major host factor for chikungunya virus infection.
Nature
; 574(7777): 259-263, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31554973
2.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
3.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
4.
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
Ann Neurol
; 89(2): 280-292, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159473
5.
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Muscle Nerve
; 65(1): 89-95, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618930
6.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
7.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932
8.
Becker muscular dystrophy severity is linked to the structure of dystrophin.
Hum Mol Genet
; 24(5): 1267-79, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348330
9.
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Muscle Nerve
; 56(5): 993-997, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28256728
10.
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
J Cell Sci
; 127(Pt 13): 2873-84, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806962
11.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670690
12.
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
Hum Mol Genet
; 21(15): 3449-60, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589245
13.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
14.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
J Neuromuscul Dis
; 10(1): 125-133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373293
15.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Am J Hum Genet
; 85(3): 338-53, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19716112
16.
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
J Neuromuscul Dis
; 8(3): 419-439, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682723
17.
Preclinical Advances of Therapies for Laminopathies.
J Clin Med
; 10(21)2021 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768351
18.
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
J Neuromuscul Dis
; 8(4): 495-502, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814458
19.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Commun
; 3(3): fcab075, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34240052
20.
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
Cells
; 9(4)2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244403