Detalhe da pesquisa
1.
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
Hum Mol Genet;
2024 Mar 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38493359
2.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Proc Natl Acad Sci U S A;
120(23): e2221244120, 2023 06 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37252999
3.
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Acta Neuropathol;
147(1): 72, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38634969
4.
Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies.
Am J Physiol Cell Physiol;
325(1): C60-C68, 2023 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37212548
5.
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
Hum Mol Genet;
30(14): 1305-1320, 2021 06 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33909041
6.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet;
107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33217308
7.
Molecular Mechanisms of Diaphragm Myopathy in Humans With Severe Heart Failure.
Circ Res;
128(6): 706-719, 2021 03 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33535772
8.
KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat;
43(12): 1860-1865, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36335629
9.
Lung- and Diaphragm-Protective Ventilation by Titrating Inspiratory Support to Diaphragm Effort: A Randomized Clinical Trial.
Crit Care Med;
50(2): 192-203, 2022 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35100192
10.
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Acta Neuropathol;
144(6): 1157-1170, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36197469
11.
Association of diaphragm thickness and echogenicity with age, sex, and body mass index in healthy subjects.
Muscle Nerve;
66(2): 197-202, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35583147
12.
Early Restrictive Fluid Strategy Impairs the Diaphragm Force in Lambs with Acute Respiratory Distress Syndrome.
Anesthesiology;
136(5): 749-762, 2022 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35320344
13.
Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits.
Int J Mol Sci;
23(15)2022 Jul 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35897687
14.
Rbm20ΔRRM Mice, Expressing a Titin Isoform with Lower Stiffness, Are Protected from Mechanical Ventilation-Induced Diaphragm Weakness.
Int J Mol Sci;
23(24)2022 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36555335
15.
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Muscle Nerve;
63(1): 60-67, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32959362
16.
Changes in Respiratory Muscle Thickness during Mechanical Ventilation: Focus on Expiratory Muscles.
Anesthesiology;
134(5): 748-759, 2021 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33711154
17.
Lung- and Diaphragm-Protective Ventilation.
Am J Respir Crit Care Med;
202(7): 950-961, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32516052
18.
Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.
Int J Mol Sci;
22(17)2021 Aug 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34502093
19.
Nebulin: big protein with big responsibilities.
J Muscle Res Cell Motil;
41(1): 103-124, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31982973
20.
Diaphragm Activity during Expiration in Ventilated Critically Ill Patients.
Am J Respir Crit Care Med;
209(7): 881-883, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38190708