Detalhe da pesquisa
1.
MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.
Neuropathol Appl Neurobiol
; 49(1): e12876, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575942
2.
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Acta Neuropathol
; 144(6): 1157-1170, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197469
3.
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
Hum Mol Genet
; 28(10): 1694-1708, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649389
4.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Hum Mol Genet
; 24(23): 6624-39, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362255
5.
Physiological and ultrastructural features of human induced pluripotent and embryonic stem cell-derived skeletal myocytes in vitro.
Proc Natl Acad Sci U S A
; 111(22): 8275-80, 2014 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24843168
6.
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
J Cell Sci
; 127(Pt 13): 2873-84, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806962
7.
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
Hum Mol Genet
; 22(15): 3152-64, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575224
8.
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Traffic
; 13(6): 869-79, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369075
9.
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Biochim Biophys Acta
; 1832(12): 2103-14, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23928362
10.
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion.
Cell Mol Life Sci
; 70(12): 2159-74, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23344255
11.
Characterization of membrane-shed microvesicles from cytokine-stimulated ß-cells using proteomics strategies.
Mol Cell Proteomics
; 11(8): 230-43, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22345510
12.
Neurotransmitter release at the thalamocortical synapse instructs barrel formation but not axon patterning in the somatosensory cortex.
J Neurosci
; 32(18): 6183-96, 2012 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22553025
13.
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Biochim Biophys Acta
; 1822(10): 1570-80, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22800932
14.
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Elife
; 122023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37083699
15.
A genetically defined morphologically and functionally unique subset of 5-HT neurons in the mouse raphe nuclei.
J Neurosci
; 31(8): 2756-68, 2011 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21414898
16.
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Hum Mol Genet
; 19(24): 4820-36, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858595
17.
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
J Cachexia Sarcopenia Muscle
; 13(2): 1385-1402, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194965
18.
Ca2+ overload and mitochondrial permeability transition pore activation in living delta-sarcoglycan-deficient cardiomyocytes.
Am J Physiol Cell Physiol
; 299(3): C706-13, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20592245
19.
Degenerative abnormalities in transgenic neocortical neuropeptide Y interneurons expressing tau-green fluorescent protein.
J Neurosci Res
; 88(3): 487-99, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19830842
20.
Optimized method for extraction of exosomes from human primary muscle cells.
Skelet Muscle
; 10(1): 20, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641118