Detalhe da pesquisa
1.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
2.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1295, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030676
3.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1027-1035, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926259
4.
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.
Biomedicines
; 10(6)2022 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740394
5.
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.
J Clin Med
; 10(23)2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884222
6.
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I.
J Clin Med
; 9(12)2020 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33291833
7.
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(11)2020 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171734
8.
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.
Neurol Genet
; 6(4): e484, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802949
9.
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Genes (Basel)
; 11(7)2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645888