Detalhe da pesquisa
1.
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Ann Neurol
; 92(5): 793-806, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897138
2.
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Neuropathol Appl Neurobiol
; 48(5): e12817, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342985
3.
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Clin Genet
; 101(2): 233-241, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34842280
4.
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Eur J Neurol
; 28(4): 1356-1365, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151602
5.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology
; 102(7): e209174, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513194
6.
Cardiac protein changes in ischaemic and dilated cardiomyopathy: a proteomic study of human left ventricular tissue.
J Cell Mol Med
; 16(10): 2471-86, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22435364
7.
Influence of heart failure on nucleolar organization and protein expression in human hearts.
Biochem Biophys Res Commun
; 418(2): 222-8, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22244875
8.
Differences in MEF2 and NFAT transcriptional pathways according to human heart failure aetiology.
PLoS One
; 7(2): e30915, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22363514
9.
Influence of heart failure on nucleocytoplasmic transport in human cardiomyocytes.
Cardiovasc Res
; 85(3): 464-72, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19819881
10.
Prenatal ethanol exposure alters the cytoskeleton and induces glycoprotein microheterogeneity in rat newborn hepatocytes.
Alcohol Alcohol
; 39(3): 203-12, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15082457
11.
Chronic ethanol consumption enhances interleukin-1-mediated signal transduction in rat liver and in cultured hepatocytes.
Alcohol Clin Exp Res
; 27(12): 1979-86, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14691386