Detalhe da pesquisa
1.
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
Cell
; 133(7): 1149-61, 2008 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-18585350
2.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Acta Neuropathol
; 142(2): 259-278, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095977
3.
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
4.
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
5.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Mov Disord
; 35(8): 1336-1345, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506582
6.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
7.
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Brain
; 142(6): 1573-1586, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009047
8.
Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model.
Hum Mol Genet
; 26(17): 3396-3408, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854702
9.
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.
Am J Hum Genet
; 98(6): 1208-1219, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27231129
10.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
11.
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.
Acta Neuropathol
; 138(2): 173-186, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911827
12.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimers Dement
; 14(12): 1632-1639, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114415
13.
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 68-74, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152850
14.
Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Neurobiol Dis
; 104: 97-103, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461250
15.
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PLoS Med
; 14(3): e1002270, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28350801
16.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
17.
From Common to Rare Variants: The Genetic Component of Alzheimer Disease.
Hum Hered
; 81(3): 129-141, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002825
18.
PLD3 and sporadic Alzheimer's disease risk.
Nature
; 520(7545): E1, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832408
19.
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Am J Med Genet B Neuropsychiatr Genet
; 171B(3): 377-82, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26978485
20.
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Hum Mutat
; 36(5): 489-95, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726928