Detalhe da pesquisa
1.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Hum Mol Genet
; 30(1): 65-71, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445179
2.
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 30(5): 1246-1255, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732882
3.
A novel CACNA1A R2201W variant in a woman with hemiplegic migraine.
Neurol Sci
; 44(9): 3299-3302, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148334
4.
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Neurogenetics
; 23(2): 157-165, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013804
5.
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
J Neurol
; 271(4): 1921-1936, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112783
6.
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
J Hum Genet
; 63(6): 779-781, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29568000
7.
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
Mol Med Rep
; 22(6): 4561-4566, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173999
8.
In vitro antitumor activity of the water soluble copper(I) complexes bearing the tris(hydroxymethyl)phosphine ligand.
J Med Chem
; 51(4): 798-808, 2008 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-18251492
9.
1-(3',4'-Dichloro-2-fluoro[1,1'-biphenyl]-4-yl)-cyclopropanecarboxylic acid (CHF5074), a novel gamma-secretase modulator, reduces brain beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease without causing peripheral toxicity.
J Pharmacol Exp Ther
; 323(3): 822-30, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17895400
10.
Fifty Hertz electromagnetic field exposure stimulates secretion of beta-amyloid peptide in cultured human neuroglioma.
Neurosci Lett
; 418(1): 9-12, 2007 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17382472
11.
Longitudinal analysis of immune cell phenotypes in early stage multiple sclerosis: distinctive patterns characterize MRI-active patients.
Brain
; 129(Pt 8): 1993-2007, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16870883
12.
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.
Biomed Rep
; 7(3): 241-246, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28811895
13.
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Biomed Rep
; 7(5): 451-454, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29181157
14.
Nimodipine selectively stimulates beta-amyloid 1-42 secretion by a mechanism independent of calcium influx blockage.
Neurobiol Aging
; 27(2): 218-27, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16399208
15.
Synthesis and biological activity of flurbiprofen analogues as selective inhibitors of beta-amyloid(1)(-)(42) secretion.
J Med Chem
; 48(18): 5705-20, 2005 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-16134939
16.
Dopamine inhibits responses of astroglia-enriched cultures to lipopolysaccharide via a beta-adrenoreceptor-mediated mechanism.
J Neuroimmunol
; 150(1-2): 29-36, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15081246
17.
Octopamine, unlike other trace amines, inhibits responses of astroglia-enriched cultures to lipopolysaccharide via a ß-adrenoreceptor-mediated mechanism.
Neurosci Lett
; 517(1): 36-40, 2012 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22507691
18.
A new class of antitumor trans-amine-amidine-Pt(II) cationic complexes: influence of chemical structure and solvent on in vitro and in vivo tumor cell proliferation.
J Med Chem
; 53(16): 6210-27, 2010 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20681543
19.
CHF5074, a novel gamma-secretase modulator, restores hippocampal neurogenesis potential and reverses contextual memory deficit in a transgenic mouse model of Alzheimer's disease.
J Alzheimers Dis
; 20(1): 159-73, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20164581
20.
In vitro and in vivo profiling of CHF5022 and CHF5074 Two beta-amyloid1-42 lowering agents.
Pharmacol Res
; 55(4): 318-28, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17292621