Detalhe da pesquisa
1.
The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer's disease.
Nature
; 586(7831): 735-740, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32879487
2.
Investigation of sex differences in mutation carriers of the Dominantly Inherited Alzheimer Network.
Alzheimers Dement
; 20(1): 47-62, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740921
3.
α-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden.
Alzheimers Dement
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38666355
4.
Validation of newly derived polygenic risk scores for dementia in a prospective study of older individuals.
Alzheimers Dement
; 19(12): 5333-5342, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37177856
5.
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Alzheimers Dement
; 19(9): 3835-3847, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951251
6.
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.
Am J Hum Genet
; 105(4): 822-835, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585107
7.
Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Acta Neuropathol
; 143(1): 33-53, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719765
8.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1859-1875, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108311
9.
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1901-1903, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636380
10.
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.
Am J Hum Genet
; 100(2): 193-204, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065470
11.
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Hum Mol Genet
; 26(6): 1133-1145, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158451
12.
Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
Bioinformatics
; 34(16): 2724-2731, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590295
13.
Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.
Am J Hum Genet
; 100(2): 371, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157542
14.
Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.
Alzheimer Dis Assoc Disord
; 28(2): 190-3, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-22892647
15.
Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.
Mol Neurodegener
; 19(1): 43, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38812061
16.
Modifiable risk factors, APOE and risk of Alzheimer disease: one size does not fit all.
medRxiv
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746455
17.
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37961373
18.
Systematic proteomics in Autosomal dominant Alzheimer's disease reveals decades-early changes of CSF proteins in neuronal death, and immune pathways.
medRxiv
; 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260583
19.
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
Hum Mol Genet
; 20(5): 867-79, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21138942
20.
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Brain
; 135(Pt 3): 784-93, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366794