Detalhe da pesquisa
1.
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Hum Mol Genet
; 33(3): 254-269, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930228
2.
BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Circ Res
; 132(11): e188-e205, 2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37139790
3.
Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2ß in a myotubular myopathy model.
Proc Natl Acad Sci U S A
; 119(40): e2202236119, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161941
4.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Proc Natl Acad Sci U S A
; 119(9)2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217605
5.
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Brain
; 146(10): 4158-4173, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490306
6.
Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.
Brain
; 146(7): 3029-3048, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562127
7.
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
8.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124360
9.
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
Mol Ther
; 30(2): 868-880, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34371181
10.
Mutation update for the ACTN2 gene.
Hum Mutat
; 43(12): 1745-1756, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116040
11.
A phosphoinositide conversion mechanism for exit from endosomes.
Nature
; 529(7586): 408-12, 2016 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26760201
12.
Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.
Mol Ther
; 29(8): 2514-2534, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33940157
13.
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.
Int J Mol Sci
; 23(13)2022 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35805973
14.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Neurogenetics
; 22(1): 33-41, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405017
15.
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Hum Mol Genet
; 28(24): 4067-4077, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628461
16.
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
17.
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Ann Neurol
; 88(2): 274-282, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386344
18.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
19.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
20.
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy.
Proc Natl Acad Sci U S A
; 115(43): 11066-11071, 2018 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30291191