Detalhe da pesquisa
1.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Hum Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753158
2.
Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Neurobiol Dis
; 183: 106177, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271286
3.
Long-term analysis of the effects of COVID-19 in people with epilepsy: Results from a multicenter on-line survey across the pandemic waves.
Epilepsy Behav
; 135: 108900, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115083
4.
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.
Hum Mol Genet
; 28(1): 64-73, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239720
5.
Autophagy is essential for maintaining the growth of a human (mini-)organ: Evidence from scalp hair follicle organ culture.
PLoS Biol
; 16(3): e2002864, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590104
6.
Saliva detection of SARS-CoV-2 for mitigating company outbreaks: a surveillance experience, Milan, Italy, March 2021.
Epidemiol Infect
; 149: e171, 2021 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325754
7.
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807238
8.
Chromatinopathies: A focus on Cornelia de Lange syndrome.
Clin Genet
; 97(1): 3-11, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721174
9.
Saliva sampling for chasing SARS-CoV-2: A Game-changing strategy.
Pharmacol Res
; 165: 105380, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338623
10.
Circadian clock: Time for novel anticancer strategies?
Pharmacol Res
; 100: 288-95, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26319800
11.
Longitudinal transcriptomic analysis of mouse sciatic nerve reveals pathways associated with age-related muscle pathology.
J Cachexia Sarcopenia Muscle
; 14(3): 1322-1336, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905126
12.
Feasibility and acceptability of saliva-based testing for the screening of SARS-CoV-2 infection in prison.
Front Public Health
; 10: 808030, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36033789
13.
KMT2A: Umbrella Gene for Multiple Diseases.
Genes (Basel)
; 13(3)2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328068
14.
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.
Front Cell Dev Biol
; 10: 979512, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225316
15.
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies.
Front Cell Dev Biol
; 9: 654467, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33959609
16.
An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.
Cell Death Dis
; 12(4): 292, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731672
17.
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
Cell Death Discov
; 7(1): 34, 2021 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597506
18.
Dynamic acetylation profile during mammalian neurulation.
Birth Defects Res
; 112(2): 205-211, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31758757
19.
The benefits of nutritional counselling for improving sport performance.
J Sports Med Phys Fitness
; 59(11): 1878-1884, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215198
20.
Synthesis and in Vitro Anticancer Activity of the First Class of Dual Inhibitors of REV-ERBß and Autophagy.
J Med Chem
; 58(15): 5900-15, 2015 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26135471