Search details
1.
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.
Cell
; 133(7): 1149-61, 2008 Jun 27.
Article
in English
| MEDLINE | ID: mdl-18585350
2.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35446447
3.
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Mol Psychiatry
; 26(10): 5766-5788, 2021 10.
Article
in English
| MEDLINE | ID: mdl-32647257
4.
Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy.
Neuropathol Appl Neurobiol
; 47(7): 1109-1113, 2021 12.
Article
in English
| MEDLINE | ID: mdl-33730418
5.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Acta Neuropathol
; 142(2): 259-278, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34095977
6.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Mov Disord
; 35(8): 1336-1345, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32506582
7.
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Brain
; 142(6): 1573-1586, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-31009047
8.
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.
Article
in English
| MEDLINE | ID: mdl-31292136
9.
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.
Article
in English
| MEDLINE | ID: mdl-28461250
10.
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.
Article
in English
| MEDLINE | ID: mdl-28350801
11.
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Mol Psychiatry
; 26(10): 5789, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34272490
12.
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.
Article
in English
| MEDLINE | ID: mdl-26978485
13.
Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.
Brain
; 137(Pt 5): 1533-49, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24625695
14.
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Nat Genet
; 38(1): 24-6, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16369530
15.
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
Neurogenetics
; 15(2): 95-100, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24469240
16.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain
; 136(Pt 11): 3395-407, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24065723
17.
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Eur J Hum Genet
; 2024 Mar 04.
Article
in English
| MEDLINE | ID: mdl-38433263
18.
Phenotype and imaging features associated with APP duplications.
Alzheimers Res Ther
; 15(1): 93, 2023 05 11.
Article
in English
| MEDLINE | ID: mdl-37170141
19.
Copy number variations involving the microtubule-associated protein tau in human diseases.
Biochem Soc Trans
; 40(4): 672-6, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22817714
20.
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Stem Cell Res
; 61: 102762, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35358831