Detalhe da pesquisa
1.
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Nat Immunol
; 22(2): 128-139, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398182
2.
Guam ALS-PDC is a distinct double-prion disorder featuring both tau and Aß prions.
Proc Natl Acad Sci U S A
; 120(13): e2220984120, 2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952379
3.
A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry.
PLoS Genet
; 18(7): e1009977, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788729
4.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
5.
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Acta Neuropathol
; 147(1): 70, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38598053
6.
Multi-omic Analysis of Uterine Leiomyomas in Self-Described Black and White Women: Molecular Insights into Health Disparities.
Am J Obstet Gynecol
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723985
7.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
8.
Large-scale rare variant burden testing in Parkinson's disease.
Brain
; 146(11): 4622-4632, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348876
9.
Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
J Allergy Clin Immunol
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154666
10.
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.
Genes Immun
; 24(4): 200-206, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488248
11.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Clin Immunol
; 255: 109732, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562721
12.
Response of human macrophages to gamma radiation is mediated via expression of endogenous retroviruses.
PLoS Pathog
; 17(2): e1009305, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33556144
13.
Metronomic dosing of ovarian cancer cells with the ATR inhibitor AZD6738 leads to loss of CDC25A expression and resistance to ATRi treatment.
Gynecol Oncol
; 177: 60-71, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639904
14.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521889
15.
Ancestry-related differences in chromatin accessibility and gene expression of APOE ε4 are associated with Alzheimer's disease risk.
Alzheimers Dement
; 19(9): 3902-3915, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037656
16.
The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.
Alzheimers Dement
; 19(9): 4187-4195, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37390458
17.
Survival motor neuron protein deficiency alters microglia reactivity.
Glia
; 70(7): 1337-1358, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373853
18.
Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.
J Transl Med
; 20(1): 606, 2022 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528667
19.
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.
J Neurol Neurosurg Psychiatry
; 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008116
20.
Systematic evaluation of genetic mutations in ALS: a population-based study.
J Neurol Neurosurg Psychiatry
; 2022 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896380