Detalhe da pesquisa
1.
Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease.
J Neurophysiol
; 130(2): 353-363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380604
2.
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Neurol Sci
; 43(2): 1071-1077, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296356
3.
Fighting the Huntington's Disease with a G-Quadruplex-Forming Aptamer Specifically Binding to Mutant Huntingtin Protein: Biophysical Characterization, In Vitro and In Vivo Studies.
Int J Mol Sci
; 23(9)2022 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563194
4.
Truncated Analogues of a G-Quadruplex-Forming Aptamer Targeting Mutant Huntingtin: Shorter Is Better!
Int J Mol Sci
; 23(20)2022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293267
5.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Neuropathol Appl Neurobiol
; 47(5): 664-678, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33393119
6.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807278
7.
The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity.
Int J Mol Sci
; 21(19)2020 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050117
8.
Metabolic syndrome, Mediterranean diet, and polyphenols: Evidence and perspectives.
J Cell Physiol
; 234(5): 5807-5826, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30317573
9.
Meldonium improves Huntington's disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression.
J Cell Physiol
; 234(6): 9233-9246, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362565
10.
Senescence Phenomena and Metabolic Alteration in Mesenchymal Stromal Cells from a Mouse Model of Rett Syndrome.
Int J Mol Sci
; 20(10)2019 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31117273
11.
Verapamil Inhibits Ser202/Thr205 Phosphorylation of Tau by Blocking TXNIP/ROS/p38 MAPK Pathway.
Pharm Res
; 35(2): 44, 2018 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29404777
12.
Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome.
Neurocase
; 24(5-6): 238-241, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30583716
13.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
J Med Genet
; 54(10): 710-720, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735299
14.
Neurofibromatous neuropathy: An ultrastructural study.
Ultrastruct Pathol
; 42(3): 312-316, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29583067
15.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
J Cell Physiol
; 232(12): 3454-3467, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28098348
16.
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
J Neurol Neurosurg Psychiatry
; 89(11): 1232-1234, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29487168
17.
Human blood lipid profiles after dietary supplementation of different omega 3 ethyl esters formulations.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1231: 123922, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976941
18.
Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
Front Genet
; 13: 867989, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35646085
19.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes (Basel)
; 13(7)2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885913
20.
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Cancers (Basel)
; 15(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36612057