Detalhe da pesquisa
1.
FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions.
Cell
; 173(3): 720-734.e15, 2018 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29677515
2.
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.
Proc Natl Acad Sci U S A
; 120(36): e2302720120, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643212
3.
Genetics of Alzheimer's disease: an East Asian perspective.
J Hum Genet
; 68(3): 115-124, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641666
4.
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Eur J Neurol
; 30(7): 1861-1870, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943150
5.
Four-repeat tauopathies and late-onset psychiatric disorders: Etiological relevance or incidental findings?
Neuropathology
; 43(1): 51-71, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35774036
6.
Disruption of a RAC1-centred network is associated with Alzheimer's disease pathology and causes age-dependent neurodegeneration.
Hum Mol Genet
; 29(5): 817-833, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31942999
7.
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.
J Hum Genet
; 67(4): 203-208, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737388
8.
Brain TDP-43 pathology in corticobasal degeneration: Topographical correlation with neuronal loss.
Neuropathol Appl Neurobiol
; 48(3): e12786, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913181
9.
Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.
Mov Disord
; 36(7): 1634-1643, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33570211
10.
A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease.
Mol Med
; 25(1): 20, 2019 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216982
11.
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.
J Hum Genet
; 63(12): 1259-1267, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30266950
12.
Evaluation of polygenic risks for narcolepsy and essential hypersomnia.
J Hum Genet
; 61(10): 873-878, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27305985
13.
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
J Hum Genet
; 60(5): 281-3, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25694106
14.
Immune-related pathways including HLA-DRB1(∗)13:02 are associated with panic disorder.
Brain Behav Immun
; 46: 96-103, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25582808
15.
A polymorphism in CCR1/CCR3 is associated with narcolepsy.
Brain Behav Immun
; 49: 148-55, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25986216
16.
Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.
Clin Exp Nephrol
; 19(2): 225-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24718812
17.
Polygenic effects on the risk of Alzheimer's disease in the Japanese population.
Alzheimers Res Ther
; 16(1): 45, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414085
18.
Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis.
Acta Neuropathol Commun
; 12(1): 14, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254245
19.
The clinical application of optimized AT(N) classification in Alzheimer's clinical syndrome (ACS) and non-ACS conditions.
Neurobiol Aging
; 127: 23-32, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37030016
20.
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
Brain Sci
; 13(6)2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371433