Detalhe da pesquisa
1.
The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.
Mol Cell Proteomics
; 23(3): 100718, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224738
2.
Lung Microbiome as a Treatable Trait in Chronic Respiratory Disorders.
Lung
; 201(5): 455-466, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752217
3.
Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.
J Biol Chem
; 296: 100207, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33334879
4.
Insights into the genetic basis of retinal detachment.
Hum Mol Genet
; 29(4): 689-702, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816047
5.
Propagation of Parkinson's disease by extracellular vesicle production and secretion.
Biochem Soc Trans
; 50(5): 1303-1314, 2022 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111783
6.
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
Am J Med Genet A
; 188(1): 216-223, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34611991
7.
Sulfasalazine decreases astrogliosis-mediated seizure burden.
Epilepsia
; 63(4): 844-854, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132640
8.
Gut metabolite S-equol ameliorates hyperexcitability in entorhinal cortex neurons following Theiler murine encephalomyelitis virus-induced acute seizures.
Epilepsia
; 62(8): 1829-1841, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212377
9.
Models of spatiotemporal variation in rabbit abundance reveal management hot spots for an invasive species.
Ecol Appl
; 30(4): e02083, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981437
10.
TRPV4 blockade reduces voiding frequency, ATP release, and pelvic sensitivity in mice with chronic urothelial overexpression of NGF.
Am J Physiol Renal Physiol
; 317(6): F1695-F1706, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630542
11.
Rabbit Hemorrhagic Disease Virus 2 (RHDV2; GI.2) Is Replacing Endemic Strains of RHDV in the Australian Landscape within 18 Months of Its Arrival.
J Virol
; 92(2)2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29093089
12.
Sulfasalazine decreases mouse cortical hyperexcitability.
Epilepsia
; 60(7): 1365-1377, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211419
13.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
14.
Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib.
Pediatr Res
; 83(5): 982-992, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342131
15.
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J Med Genet
; 54(3): 212-216, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920058
16.
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.
JAMA
; 319(16): 1687-1695, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29710166
17.
Nursing Student Collaborative With Meals on Wheels: Home Visits for At-Risk Senior Adults.
Nurs Educ Perspect
; 39(3): 190-191, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053531
18.
Altered phosphorylation, electrophysiology, and behavior on attenuation of PDE4B action in hippocampus.
BMC Neurosci
; 18(1): 77, 2017 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29197324
19.
Reactive astrogliosis causes the development of spontaneous seizures.
J Neurosci
; 35(8): 3330-45, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716834
20.
Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome.
Circulation
; 130(1): 27-34, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24795390