Detalhe da pesquisa
1.
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
2.
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
3.
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Ann Neurol
; 83(2): 269-282, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29328520
4.
Replacement Fibrosis in the Diaphragm of Mechanically Ventilated Critically Ill Patients.
Am J Respir Crit Care Med
; 207(3): 351-354, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178289
5.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sci Transl Med
; 16(741): eadg2841, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569017
6.
Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator.
J Gen Physiol
; 153(7)2021 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152365
7.
COVID-19 is associated with distinct myopathic features in the diaphragm of critically ill patients.
BMJ Open Respir Res
; 8(1)2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544735
8.
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
J Clin Invest
; 131(9)2021 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33755597
9.
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Acta Neuropathol Commun
; 8(1): 142, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819427
10.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest
; 130(2): 754-767, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31671076
11.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest
; 134(3)2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299595
12.
Titin-based mechanosensing modulates muscle hypertrophy.
J Cachexia Sarcopenia Muscle
; 9(5): 947-961, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978560