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.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812
12.
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.
J Neurol Neurosurg Psychiatry
; 84(2): 183-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138764
13.
Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants.
Genes (Basel)
; 14(8)2023 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628709
14.
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Genes (Basel)
; 14(11)2023 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002982
15.
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Neurology
; 101(1): e83-e93, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37202167
16.
Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population.
J Med Genet
; 48(3): 210-1, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21037273
17.
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects.
J Med Genet
; 48(7): 485-92, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441263
18.
Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers.
Neuroimage Clin
; 36: 103222, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223668
19.
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
Antioxidants (Basel)
; 11(5)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35624679
20.
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis.
Neurol Genet
; 8(6): e200033, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313067