Detalhe da pesquisa
1.
Methylation of the Vitamin D Receptor Gene in Human Disorders.
Int J Mol Sci
; 25(1)2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203278
2.
In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array.
Int J Mol Sci
; 24(12)2023 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373276
3.
Epigenetics of Myotonic Dystrophies: A Minireview.
Int J Mol Sci
; 22(22)2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830473
4.
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review.
Int J Mol Sci
; 22(8)2021 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921902
5.
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Ann Hum Genet
; 84(6): 463-468, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32484936
6.
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1.
J Int Neuropsychol Soc
; 26(5): 492-502, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822314
7.
Circulating Long Non-Coding RNA GAS5 Is Overexpressed in Serum from Osteoporotic Patients and Is Associated with Increased Risk of Bone Fragility.
Int J Mol Sci
; 21(18)2020 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32967315
8.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
9.
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes.
J Mol Cell Cardiol
; 118: 95-109, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29551391
10.
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.
Biochim Biophys Acta Mol Basis Dis
; 1864(3): 917-924, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29291944
11.
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.
Exp Cell Res
; 342(1): 39-51, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26905645
12.
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
Neuroepidemiology
; 46(3): 191-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26882032
13.
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells.
Int J Cancer
; 137(6): 1491-7, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704079
14.
Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype.
Neuromuscul Disord
; 40: 24-30, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38810327
15.
Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study.
Genes (Basel)
; 14(3)2023 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980815
16.
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis.
Genes (Basel)
; 13(4)2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456459
17.
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population.
Front Nutr
; 9: 838177, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35369087
18.
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures.
J Clin Endocrinol Metab
; 107(8): 2267-2285, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532548
19.
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids.
Cells
; 11(7)2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35406799
20.
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
Elife
; 112022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018009