Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Circulation
; 142(22): 2155-2171, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33023321
3.
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
4.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
5.
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
Int J Mol Sci
; 22(11)2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34204919
6.
Phospholipids: Identification and Implication in Muscle Pathophysiology.
Int J Mol Sci
; 22(15)2021 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360941
7.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778822
8.
Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies.
Semin Cell Dev Biol
; 64: 213-223, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531051
9.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008887
10.
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Eur Radiol
; 28(12): 5293-5303, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802573
11.
Selenoprotein Gene Nomenclature.
J Biol Chem
; 291(46): 24036-24040, 2016 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27645994
12.
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Hum Mol Genet
; 23(4): 980-91, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105469
13.
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Muscle Nerve
; 52(5): 728-35, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808192
14.
A rising titan: TTN review and mutation update.
Hum Mutat
; 35(9): 1046-59, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980681
15.
Early-onset myopathies: Entering a new age.
Semin Cell Dev Biol
; 64: 158-159, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28364966
16.
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Cell Rep Med
; 5(3): 101439, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38402623
17.
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
Brain
; 135(Pt 4): 1115-27, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22418739
18.
Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy.
Biomedicines
; 11(2)2023 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830771
19.
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies.
Cells
; 12(2)2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672271
20.
Estimations of smoking-attributable mortality in Spain at a regional level: comparison of two methods.
Ann Epidemiol
; 82: 77-83.e3, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037345