Detalhe da pesquisa
1.
Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease.
Annu Rev Neurosci
; 42: 227-247, 2019 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30909783
2.
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.
Brain
; 147(2): 486-504, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776516
3.
Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9.
Mol Cell
; 68(3): 479-490.e5, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29056323
4.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089648
5.
The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUGâ¢CAGG repeats.
Hum Mol Genet
; 30(11): 1020-1029, 2021 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856033
6.
Repeat instability as the basis for human diseases and as a potential target for therapy.
Nat Rev Mol Cell Biol
; 11(3): 165-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177394
7.
A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels.
Proc Natl Acad Sci U S A
; 116(42): 20991-21000, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570586
8.
Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia.
Curr Opin Neurol
; 34(5): 748-755, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392299
9.
Intron retention induced by microsatellite expansions as a disease biomarker.
Proc Natl Acad Sci U S A
; 115(16): 4234-4239, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610297
10.
Repeat-associated non-ATG (RAN) translation.
J Biol Chem
; 293(42): 16127-16141, 2018 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30213863
11.
Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.
Mol Ther
; 26(11): 2617-2630, 2018 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30274788
12.
Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1.
Neurol Sci
; 40(6): 1255-1265, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891637
13.
Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules.
Int J Mol Sci
; 20(16)2019 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31426500
14.
Arsenic Monitoring in Water by Colorimetry Using an Optimized Leucomalachite Green Method.
Molecules
; 24(2)2019 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30669352
15.
Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy.
Neurobiol Dis
; 112: 35-48, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331264
16.
Systematic review of professional liability when prescribing ß-lactams for patients with a known penicillin allergy.
Ann Allergy Asthma Immunol
; 121(5): 530-536, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29551402
17.
Membrane-Anchored Cyclic Peptides as Effectors of Mitochondrial Oxidative Phosphorylation.
Biochemistry
; 55(14): 2100-11, 2016 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26985698
18.
Long-Range Optical Coherence Tomography of the Neonatal Upper Airway for Early Diagnosis of Intubation-related Subglottic Injury.
Am J Respir Crit Care Med
; 192(12): 1504-13, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26214043
19.
Birth Tourism and Neonatal Intensive Care: A Children's Hospital Experience.
Am J Perinatol
; 33(14): 1415-1419, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27183000
20.
Combining Remote Temperature Sensing with in-Situ Sensing to Track Marine/Freshwater Mixing Dynamics.
Sensors (Basel)
; 16(9)2016 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27589770