Detalhe da pesquisa
1.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
2.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Am J Med Genet A
; 194(5): e63517, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149346
3.
Incidence and prevalence of dementia: A 2015-2020 population-based study in the Campania Region of Italy.
Neuroepidemiology
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657587
4.
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.
Neurol Sci
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607533
5.
Radial peripapillary vessel density as early biomarker in preperimetric glaucoma and amnestic mild cognitive impairment.
Graefes Arch Clin Exp Ophthalmol
; 260(7): 2321-2328, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064364
6.
Early changes in synaptic and intrinsic properties of dentate gyrus granule cells in a mouse model of Alzheimer's disease neuropathology and atypical effects of the cholinergic antagonist atropine.
Neurobiol Dis
; 152: 105274, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33484828
7.
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Mov Disord
; 35(11): 2106-2111, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658388
8.
MRI features suggestive of gadolinium retention do not correlate with Expanded Disability Status Scale worsening in Multiple Sclerosis.
Neuroradiology
; 61(2): 155-162, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617409
9.
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.
Neurol Sci
; 40(5): 979-984, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737580
10.
Optical coherence tomography angiography retinal vascular network assessment in multiple sclerosis.
Mult Scler
; 24(13): 1706-1714, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933233
11.
The chemokine CXCL12 mediates the anti-amyloidogenic action of painless human nerve growth factor.
Brain
; 140(1): 201-217, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031222
12.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
13.
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
Hum Mol Genet
; 24(20): 5759-74, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231220
14.
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.
Neurogenetics
; 17(4): 233-244, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27637465
15.
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Hum Mol Genet
; 23(18): 4758-69, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24760770
16.
RAGE inhibition in microglia prevents ischemia-dependent synaptic dysfunction in an amyloid-enriched environment.
J Neurosci
; 34(26): 8749-60, 2014 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24966375
17.
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Neurogenetics
; 15(3): 183-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24816432
18.
Optical coherence tomography angiography detects retinal vascular alterations in different phases of multiple sclerosis.
Mult Scler
; 25(2): 300-301, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29587576
19.
Increased excitability of dentate gyrus mossy cells occurs early in life in the Tg2576 model of Alzheimer's disease.
bioRxiv
; 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645244
20.
Dentate Gyrus Granule Cells Show Stability of BDNF Protein Expression in Mossy Fiber Axons with Age, and Resistance to Alzheimer's Disease Neuropathology in a Mouse Model.
eNeuro
; 11(3)2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164567