Detalhe da pesquisa
1.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
2.
An integrative agent-based vertical evacuation risk assessment model for near-field tsunami hazards.
Risk Anal
; 42(12): 2720-2734, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102598
3.
Astroglial FMRP modulates synaptic signaling and behavior phenotypes in FXS mouse model.
Glia
; 69(3): 594-608, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970902
4.
Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
Muscle Nerve
; 64(1): 43-49, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683712
5.
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.
Hum Mol Genet
; 27(9): 1556-1564, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462491
6.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
7.
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
Neurobiol Dis
; 124: 218-229, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30468864
8.
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease.
Proc Natl Acad Sci U S A
; 113(3): 746-50, 2016 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733679
9.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
10.
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Neuromuscul Disord
; 33(2): 199-207, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689846
11.
Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice.
Skelet Muscle
; 12(1): 25, 2022 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447272
12.
Mitochondrial fragmentation enables localized signaling required for cell repair.
J Cell Biol
; 219(5)2020 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236517
13.
High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia.
J Clin Lipidol
; 14(4): 459-469.e0, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32593511