Detalhe da pesquisa
1.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genet Med
; 26(5): 101082, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281098
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.
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
4.
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
5.
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
6.
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
7.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain
; 136(Pt 11): 3395-407, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065723
8.
Phenotype and imaging features associated with APP duplications.
Alzheimers Res Ther
; 15(1): 93, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170141
9.
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Stem Cell Res
; 61: 102762, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358831
10.
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
Acta Neuropathol Commun
; 10(1): 20, 2022 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151370
11.
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
Acta Neuropathol Commun
; 9(1): 196, 2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922638
12.
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Neurol Genet
; 7(5): e609, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532568
13.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Eur J Hum Genet
; 29(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591635
14.
Advertisement of antibiotics for upper respiratory infections and equity in access to treatment: a cross-sectional study in Nepal.
J Pharm Policy Pract
; 13: 4, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32110416
15.
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.
J Alzheimers Dis
; 71(1): 227-243, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31381512
16.
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.
J Alzheimers Dis
; 62(2): 821-831, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29480197
17.
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.
J Alzheimers Dis
; 56(1): 37-46, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858710
18.
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Neurobiol Aging
; 59: 220.e1-220.e9, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28789839
19.
Seizures in dominantly inherited Alzheimer disease.
Neurology
; 87(9): 912-9, 2016 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466472
20.
ABCA7 rare variants and Alzheimer disease risk.
Neurology
; 86(23): 2134-7, 2016 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27037229