Detalhe da pesquisa
1.
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.
Int J Mol Sci
; 25(6)2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542395
2.
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
Int J Mol Sci
; 23(10)2022 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628235
3.
Ribosomal RACK1 Regulates the Dendritic Arborization by Repressing FMRP Activity.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233159
4.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
Hum Genet
; 139(2): 227-245, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919630
5.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
Clin Genet
; 99(4): 601-603, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314043
6.
Rutin Protects Fibroblasts from UVA Radiation through Stimulation of Nrf2 Pathway.
Antioxidants (Basel)
; 12(4)2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107196
7.
Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.
Cells
; 12(5)2023 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36899894
8.
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Genes (Basel)
; 13(7)2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885943
9.
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.
Biomolecules
; 11(2)2021 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669384
10.
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.
Genes (Basel)
; 12(12)2021 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946857
11.
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.
Eur J Hum Genet
; 28(5): 567-575, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804632
12.
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.
Genes (Basel)
; 11(3)2020 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111011
13.
Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome.
Genes (Basel)
; 7(8)2016 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27548224
14.
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.
J Genet Disord Genet Rep
; 5(3)2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232951