Detalhe da pesquisa
1.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Mov Disord
; 38(2): 286-303, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692014
2.
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
Neurol Sci
; 44(4): 1393-1399, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481973
3.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.
Mov Disord
; 37(4): 857-864, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997937
4.
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.
Mov Disord
; 37(9): 1929-1937, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810454
5.
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.
Neurol Sci
; 43(3): 1791-1797, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559338
6.
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy.
Neurol Sci
; 42(1): 305-308, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32995992
7.
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Neurogenetics
; 16(1): 55-64, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294124
8.
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Epilepsia
; 56(4): e40-3, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25752200
9.
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study.
BMC Med Genet
; 15: 131, 2014 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25496089
10.
Alpha-synuclein repeat variants and survival in Parkinson's disease.
Mov Disord
; 29(8): 1053-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578302
11.
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
Neurodegener Dis
; 14(3): 133-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348593
12.
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Epilepsia Open
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544349
13.
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Hum Mutat
; 34(9): 1208-15, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804577
14.
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Mov Disord
; 28(12): 1740-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913756
15.
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
Epilepsia
; 54(5): 927-35, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23398611
16.
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
J Med Genet
; 49(11): 721-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125461
17.
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Nat Genet
; 34(1): 29-31, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12692552
18.
ANXA1 mutation analysis in Italian patients with early onset PD.
Neurobiol Aging
; 125: 123-124, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828691
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
em Inglês
| MEDLINE | ID: mdl-37788254
20.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Ann Neurol
; 69(5): 778-92, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21391235