Detalhe da pesquisa
1.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Ann Neurol
; 90(1): 76-88, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938021
2.
A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner.
Hum Mutat
; 41(4): 807-824, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898848
3.
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.
Mov Disord
; 35(11): 2111-2114, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767585
4.
Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
Mov Disord
; 35(10): 1755-1764, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662532
5.
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Ann Neurol
; 82(4): 640-646, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28892570
6.
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Ann Neurol
; 80(5): 662-673, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632223
7.
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.
Mov Disord
; 32(10): 1432-1438, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28639421
8.
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
9.
Parkinson's disease beyond 20â years.
J Neurol Neurosurg Psychiatry
; 86(8): 849-55, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25280915
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.
Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study.
Hum Mol Genet
; 20(8): 1478-87, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21258085
12.
Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.
J Neurol Neurosurg Psychiatry
; 89(3): 323-324, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724719
13.
Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.
Stem Cell Res
; 72: 103212, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37832355
14.
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Ann Neurol
; 70(6): 964-73, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190368
15.
Protein-redistribution diet in a case of tyrosine hydroxylase enzyme deficiency.
Mov Disord
; 32(5): 794-795, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28370247
16.
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms.
Front Aging Neurosci
; 14: 1020948, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36247987
17.
VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Parkinsonism Relat Disord
; 94: 37-39, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875562
18.
GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.
Hum Mol Genet
; 18(23): 4629-39, 2009 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19744960
19.
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
Am J Hum Genet
; 82(4): 822-33, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18358451
20.
TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration.
Cell Rep
; 34(12): 108895, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33761362