Detalhe da pesquisa
1.
Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.
PLoS Genet
; 19(1): e1010565, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36656833
2.
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.
Proc Natl Acad Sci U S A
; 119(21): e2119675119, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35594404
3.
Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
J Genet Couns
; 2024 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38197741
4.
Evolution of a Mosquito's Hatching Behavior to Match Its Human-Provided Habitat.
Am Nat
; 201(2): 200-214, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36724468
5.
Practical Mouse Model to Investigate Therapeutics for Staphylococcusaureus Contaminated Surgical Mesh Implants.
J Surg Res
; 283: 428-437, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36434839
6.
No association between SCN9A and monogenic human epilepsy disorders.
PLoS Genet
; 16(11): e1009161, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33216760
7.
Second passage experiments of chronic wasting disease in transgenic mice overexpressing human prion protein.
Vet Res
; 53(1): 111, 2022 Dec 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36527166
8.
Role of Secondary Organic Matter on Soot Particle Toxicity in Reconstituted Human Bronchial Epithelia Exposed at the Air-Liquid Interface.
Environ Sci Technol
; 56(23): 17007-17017, 2022 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36416368
9.
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
BMC Cardiovasc Disord
; 22(1): 109, 2022 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35300601
10.
Keeping essential reproductive, maternal and child health services available during COVID-19 in Kenya, Mozambique, Uganda and Zimbabwe: analysis of early-pandemic policy guidelines.
BMC Public Health
; 22(1): 577, 2022 03 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35321675
11.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30304524
12.
Innate immune responses after stimulation with Toll-like receptor agonists in ex vivo microglial cultures and an in vivo model using mice with reduced microglia.
J Neuroinflammation
; 18(1): 194, 2021 Sep 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34488805
13.
Commensal bacteria calibrate the activation threshold of innate antiviral immunity.
Immunity
; 37(1): 158-70, 2012 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22705104
14.
Prion-associated cerebral amyloid angiopathy is not exacerbated by human phosphorylated tau aggregates in scrapie-infected mice expressing anchorless prion protein.
Neurobiol Dis
; 144: 105057, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32829029
15.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Mol Genet Metab
; 131(3): 325-340, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33069577
16.
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Mol Genet Metab
; 129(3): 193-206, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31980395
17.
Microglia Are Critical in Host Defense against Prion Disease.
J Virol
; 92(15)2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29769333
18.
Lack of Transmission of Chronic Wasting Disease to Cynomolgus Macaques.
J Virol
; 92(14)2018 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29695429
19.
Outbreak of Adenovirus in a Neonatal Intensive Care Unit: Critical Importance of Equipment Cleaning During Inpatient Ophthalmologic Examinations.
Ophthalmology
; 126(1): 137-143, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30180976
20.
Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia.
Ophthalmology
; 126(3): 393-406, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30315903