Detalhe da pesquisa
1.
Refining the impact of genetic evidence on clinical success.
Nature
; 629(8012): 624-629, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632401
2.
Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 581(7809): 459-464, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461653
3.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 581(7809): 434-443, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461654
4.
A single-cell map of antisense oligonucleotide activity in the brain.
Nucleic Acids Res
; 51(14): 7109-7124, 2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188501
5.
Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.
J Virol
; 97(2): e0167222, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651748
6.
Analysis of non-human primate models for evaluating prion disease therapeutic efficacy.
PLoS Pathog
; 18(8): e1010728, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994510
7.
Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 590(7846): E56, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536628
8.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 597(7874): E3-E4, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373650
9.
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 590(7846): E53, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536625
10.
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.
Nucleic Acids Res
; 48(19): 10615-10631, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776089
11.
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Proc Natl Acad Sci U S A
; 116(16): 7793-7798, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30936307
12.
Multimodal small-molecule screening for human prion protein binders.
J Biol Chem
; 295(39): 13516-13531, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32723867
13.
Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.
Mol Cell Proteomics
; 18(12): 2388-2400, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558565
14.
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.
BMC Med
; 18(1): 140, 2020 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32552681
15.
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Am J Hum Genet
; 95(4): 371-82, 2014 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25279981
16.
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.
medRxiv
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746398
17.
Modulation of prion protein expression through cryptic splice site manipulation.
bioRxiv
; 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187635
18.
A single-cell map of antisense oligonucleotide activity in the brain.
bioRxiv
; 2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824749
19.
Biomarker changes preceding symptom onset in genetic prion disease.
medRxiv
; 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196583
20.
Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.
Sci Rep
; 12(1): 17708, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271285