Detalhe da pesquisa
1.
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity.
Int J Mol Sci
; 25(10)2024 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38791290
2.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37750340
3.
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis.
Mult Scler
; 29(4-5): 512-520, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36803228
4.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Clin Genet
; 102(2): 155-156, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35524423
5.
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease.
J Neural Transm (Vienna)
; 128(10): 1599-1610, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34109443
6.
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34065350
7.
The Autophagy-Related Organelle Autophagoproteasome Is Suppressed within Ischemic Penumbra.
Int J Mol Sci
; 22(19)2021 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34638703
8.
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
BMC Neurol
; 20(1): 258, 2020 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32600288
9.
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells.
Int J Mol Sci
; 21(13)2020 Jun 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32604996
10.
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.
Int J Mol Sci
; 21(2)2020 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31968687
11.
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures.
Int J Mol Sci
; 20(12)2019 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31197099
12.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
; 39(10): 1428-1441, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30007050
13.
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Arch Ital Biol
; 155(4): 110-117, 2017 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29405028
14.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24705357
15.
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
Am J Med Genet A
; 161A(12): 3133-6, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23956173
16.
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Genes (Basel)
; 14(8)2023 08 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37628710
17.
Autophagy Activation Associates with Suppression of Prion Protein and Improved Mitochondrial Status in Glioblastoma Cells.
Cells
; 12(2)2023 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36672156
18.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Front Neurol
; 14: 1296924, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38145127
19.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
PLoS One
; 18(10): e0292180, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37788254
20.
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Arch Ital Biol
; 155(4): 118-130, 2017 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29405036