Detalhe da pesquisa
1.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
2.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
3.
Large-scale rare variant burden testing in Parkinson's disease.
Brain
; 146(11): 4622-4632, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348876
4.
THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes.
Proc Natl Acad Sci U S A
; 118(31)2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312226
5.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Mov Disord
; 38(12): 2249-2257, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37926948
6.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521889
7.
The Parkinson's Disease DNA Variant Browser.
Mov Disord
; 36(5): 1250-1258, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33497488
8.
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
Mov Disord
; 36(2): 449-459, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107653
9.
Tau knockout exacerbates degeneration of parvalbumin-positive neurons in substantia nigra pars reticulata in Parkinson's disease-related α-synuclein A53T mice.
FASEB J
; 34(9): 12239-12254, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33000527
10.
Transcriptome analysis of LRRK2 knock-out microglia cells reveals alterations of inflammatory- and oxidative stress-related pathways upon treatment with α-synuclein fibrils.
Neurobiol Dis
; 129: 67-78, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31102768
11.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
12.
Elevated Mortalin correlates with poor outcome in hepatocellular carcinoma.
Ann Diagn Pathol
; 42: 59-63, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31310900
13.
LRRK2 modulates microglial activity through regulation of chemokine (C-X3-C) receptor 1 -mediated signalling pathways.
Hum Mol Genet
; 25(16): 3515-3523, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378696
14.
Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.
EMBO J
; 33(20): 2314-31, 2014 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25201882
15.
Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4.
J Neuroinflammation
; 15(1): 297, 2018 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368241
16.
Molecular changes in the absence of severe pathology in the pulvinar in dementia with Lewy bodies.
Mov Disord
; 33(6): 982-991, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29570843
17.
Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.
Hum Mol Genet
; 24(18): 5299-312, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123485
18.
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Mov Disord
; 37(10): 2161-2162, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866887
19.
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
Proc Natl Acad Sci U S A
; 111(7): 2626-31, 2014 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24510904
20.
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Neurodegener Dis
; 17(4-5): 208-212, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558379