Detalhe da pesquisa
1.
Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection.
Mol Psychiatry
; 2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433968
2.
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
Acta Neuropathol
; 137(6): 901-918, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30874922
3.
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
Acta Neuropathol
; 135(6): 827-837, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29589097
4.
Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.
Acta Neuropathol
; 141(4): 625-626, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591373
5.
Molecular genetics of early-onset Alzheimer's disease revisited.
Alzheimers Dement
; 12(6): 733-48, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016693
6.
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Hum Mutat
; 36(12): 1226-35, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411346
7.
The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.
Mol Neurodegener
; 17(1): 31, 2022 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477481
8.
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
Acta Neuropathol Commun
; 10(1): 43, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361255
9.
Genetic variants in progranulin upstream open reading frames increase downstream protein expression.
Neurobiol Aging
; 110: 113-121, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620513
10.
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.
Alzheimers Dement (Amst)
; 13(1): e12155, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665345
11.
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Genome Med
; 13(1): 59, 2021 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853652
12.
Investigation of the role of matrix metalloproteinases in the genetic etiology of Alzheimer's disease.
Neurobiol Aging
; 104: 105.e1-105.e6, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892965
13.
Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease.
Neurobiol Aging
; 99: 100.e17-100.e23, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33023779
14.
Amyloid-ß1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Alzheimers Res Ther
; 12(1): 108, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917274
15.
NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
Genome Biol
; 20(1): 239, 2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727106
16.
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Neurobiol Aging
; 69: 292.e7-292.e14, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29859640
17.
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Acta Neuropathol Commun
; 3: 68, 2015 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26555887
18.
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.
Neurobiol Aging
; 34(6): 1712.e1-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23352322