Detalhe da pesquisa
1.
Combination molecular therapies for type 1 spinal muscular atrophy.
Muscle Nerve
; 62(4): 550-554, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710634
2.
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.
Hum Mol Genet
; 22(20): 4084-101, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23736298
3.
Dissociation of hepatic insulin resistance from susceptibility of nonalcoholic fatty liver disease induced by a high-fat and high-carbohydrate diet in mice.
Am J Physiol Gastrointest Liver Physiol
; 306(6): G496-504, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436353
4.
Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction.
J Neurosci
; 32(11): 3818-29, 2012 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22423102
5.
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.
J Neuromuscul Dis
; 10(3): 337-348, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36872785
6.
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice.
Hum Mol Genet
; 19(20): 3906-18, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20693262
7.
Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice.
Neurobiol Dis
; 43(1): 142-51, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21396450
8.
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo.
Hum Mol Genet
; 18(7): 1310-22, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19150990
9.
Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn2B/- mouse model of spinal muscular atrophy.
Exp Neurol
; 337: 113587, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382987
10.
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future.
Am J Speech Lang Pathol
; 30(3): 1008-1022, 2021 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822657
11.
In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.
Brain Sci
; 11(2)2021 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33562482
12.
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Hum Mol Genet
; 17(8): 1063-75, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178576
13.
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy.
Biochem Biophys Res Commun
; 391(1): 517-22, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19961830
14.
Development of electrocardiogram intervals during growth of FVB/N neonate mice.
BMC Physiol
; 10: 16, 2010 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20735846
15.
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Case Rep Neurol Med
; 2018: 8587203, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159187
16.
Animal models of spinal muscular atrophy.
J Child Neurol
; 22(8): 1004-12, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17761656
17.
SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?
J Child Neurol
; 22(8): 1013-8, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17761657
18.
In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels.
PLoS One
; 12(9): e0185079, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28945765
19.
Absence of UCHL 1 function leads to selective motor neuropathy.
Ann Clin Transl Neurol
; 3(5): 331-45, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27231703
20.
ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy.
Front Biosci (Elite Ed)
; 7(1): 107-16, 2015 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25553367