Detalhe da pesquisa
1.
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
PLoS Genet;
19(8): e1010895, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37624850
2.
FHL1 is a major host factor for chikungunya virus infection.
Nature;
574(7777): 259-263, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31554973
3.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet;
61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37935568
4.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet;
108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33861953
5.
A lamin A/C variant causing striated muscle disease provides insights into filament organization.
J Cell Sci;
134(6)2021 03 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33536248
6.
TOR1AIP1-Associated Nuclear Envelopathies.
Int J Mol Sci;
24(8)2023 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37108075
7.
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
8.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci;
23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35955641
9.
Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.
Hum Mol Genet;
28(24): 4043-4052, 2019 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29893868
10.
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Nat Mater;
19(4): 464-473, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31844279
11.
N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene.
Hum Mol Genet;
27(19): 3353-3360, 2018 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29982513
12.
Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation.
Hum Mol Genet;
27(22): 3870-3880, 2018 11 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30053027
13.
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Hum Mol Genet;
27(17): 3060-3078, 2018 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29878125
14.
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Int J Mol Sci;
22(1)2020 Dec 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33396724
15.
Decreased WNT/ß-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.
Hum Mol Genet;
26(2): 333-343, 2017 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28069793
16.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet;
108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34087166
17.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet;
99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27569547
18.
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.
Hum Mol Genet;
25(11): 2220-2233, 2016 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27131347
19.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve;
58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30066418
20.
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Muscle Nerve;
56(5): 993-997, 2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28256728