Detalhe da pesquisa
1.
Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain.
Hum Mol Genet
; 31(1): 122-132, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378027
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Identification of calcium and integrin-binding protein 1 as a novel regulator of production of amyloid ß peptide using CRISPR/Cas9-based screening system.
FASEB J
; 34(6): 7661-7674, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307772
9.
Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
J Neurochem
; 154(1): 25-40, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587290
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.
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
12.
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
13.
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
14.
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
15.
Different AT(N) profiles and clinical progression classified by two different N markers using total tau and neurofilament light chain in cerebrospinal fluid.
BMJ Neurol Open
; 4(2): e000321, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046332
16.
Dissection of the polygenic architecture of neuronal Aß production using a large sample of individual iPSC lines derived from Alzheimer's disease patients.
Nat Aging
; 2(2): 125-139, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37117761
17.
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.
Neurol Genet
; 8(5): e200030, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36176336
18.
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.
Sci Adv
; 8(21): eabm5029, 2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613261
19.
Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex.
Commun Biol
; 4(1): 1107, 2021 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548609
20.
Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk.
Transl Psychiatry
; 11(1): 151, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654092