Detalhe da pesquisa
1.
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
Cerebellum
; 2023 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857779
2.
Systematic evaluation of genetic mutations in ALS: a population-based study.
J Neurol Neurosurg Psychiatry
; 2022 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896380
3.
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.
J Neurol Neurosurg Psychiatry
; 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008116
4.
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Neurogenetics
; 22(1): 65-70, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471268
5.
Validation of an Algorithm to Detect Multiple Sclerosis Cases in Administrative Health Databases in Piedmont (Italy): An Application to the Estimate of Prevalence by Age and Urbanization Level.
Neuroepidemiology
; 55(2): 119-125, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33691323
6.
Metal(loid)s role in the pathogenesis of amyotrophic lateral sclerosis: Environmental, epidemiological, and genetic data.
Environ Res
; 192: 110292, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027627
7.
C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.
Int J Mol Sci
; 22(19)2021 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638725
8.
Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study.
J Neurol Neurosurg Psychiatry
; 91(3): 291-297, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31871138
9.
Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.
Neurol Sci
; 40(12): 2537-2540, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286297
10.
HLA alleles modulate EBV viral load in multiple sclerosis.
J Transl Med
; 16(1): 80, 2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29587799
11.
A case of early-onset Parkinson's disease in a patient with KBG syndrome.
Neurol Sci
; 44(12): 4537-4539, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540342
12.
GBA variants influence cognitive status in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 93(4): 453-455, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34583942
13.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Nature
; 476(7359): 214-9, 2011 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21833088
14.
Power estimation for non-standardized multisite studies.
Neuroimage
; 134: 281-294, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27039700
15.
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
Hum Mol Genet
; 23(25): 6746-61, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25080502
16.
Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.
Brain
; 138(Pt 3): 632-43, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616667
17.
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Hum Mol Genet
; 22(19): 4021-9, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740937
18.
PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.
Ann Rheum Dis
; 74(3): e14, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24534757
19.
Inverse correlation of genetic risk score with age at onset in bout-onset and progressive-onset multiple sclerosis.
Mult Scler
; 21(11): 1463-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25533292
20.
The burden of multiple sclerosis variants in continental Italians and Sardinians.
Mult Scler
; 21(11): 1385-95, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438306