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 reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
Hum Mol Genet
; 28(11): 1872-1884, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689883
4.
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.
Hum Mol Genet
; 28(10): 1579-1593, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576443
5.
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
6.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
7.
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
8.
Current and future therapeutic approaches to the congenital myopathies.
Semin Cell Dev Biol
; 64: 191-200, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27515125
9.
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Semin Cell Dev Biol
; 64: 201-212, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27427513
10.
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
11.
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
12.
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.
J Biol Chem
; 291(28): 14555-65, 2016 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27189940
13.
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.
Hum Mol Genet
; 24(16): 4636-47, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26019235
14.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
15.
Characterization of excitation-contraction coupling components in human extraocular muscles.
Biochem J
; 466(1): 29-36, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25387602
16.
Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.
Biochem J
; 466(1): 123-35, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25431931
17.
Gain of function in the immune system caused by a ryanodine receptor 1 mutation.
J Cell Sci
; 126(Pt 15): 3485-92, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23704352
18.
Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.
Biochem J
; 455(2): 169-77, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23905709
19.
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
JCI Insight
; 9(6)2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516893
20.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
J Gen Physiol
; 156(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445312