Detalhe da pesquisa
1.
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.
Hum Mol Genet
; 29(8): 1330-1339, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242214
2.
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.
J Biol Chem
; 295(30): 10331-10339, 2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499372
3.
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
Hum Mol Genet
; 28(18): 2987-2999, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044239
4.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
5.
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Hum Mol Genet
; 26(2): 320-332, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007904
6.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
7.
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.
Elife
; 112022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238775
8.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Brain Commun
; 4(5): fcac224, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196089
9.
Patients' experiences attributed to the use of Passiflora incarnata: A qualitative, phenomenological study.
J Ethnopharmacol
; 231: 295-301, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447340
10.
Extraocular muscle function is impaired in ryr3 -/- mice.
J Gen Physiol
; 151(7): 929-943, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085573
11.
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.
Sci Rep
; 8(1): 636, 2018 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330505
12.
Role of the Three-Phase Boundary of the Platinum-Support Interface in Catalysis: A Model Catalyst Kinetic Study.
ACS Catal
; 6(9): 5865-5872, 2016 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668125