Detalhe da pesquisa
1.
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
2.
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
Eur J Med Genet;
63(12): 104087, 2020 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33137485
3.
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
J Clin Invest;
128(3): 1164-1177, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29457785
4.
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PLoS One;
11(2): e0148264, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26849574