Found: 18
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Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 337, doi. 10.3233/JND-221519
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- Publication type:
- Article
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future.
- Published in:
- American Journal of Speech-Language Pathology, 2021, v. 30, p. 1008, doi. 10.1044/2021_AJSLP-20-00217
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- Publication type:
- Article
In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 194, doi. 10.3390/brainsci11020194
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- Publication type:
- Article
Combination molecular therapies for type 1 spinal muscular atrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
- Published in:
- 2018
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- Publication type:
- Case Study
In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185079
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- Publication type:
- Article
Absence of UCHL 1 function leads to selective motor neuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 331, doi. 10.1002/acn3.298
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- Publication type:
- Article
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4084, doi. 10.1093/hmg/ddt258
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- Publication type:
- Article
Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 11, p. 3818, doi. 10.1523/JNEUROSCI.5775-11.2012
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- Publication type:
- Article
Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015887
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- Publication type:
- Article
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 3906, doi. 10.1093/hmg/ddq330
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- Publication type:
- Article
Development of electrocardiogram intervalsduring growth of FVB/N neonate mice.
- Published in:
- BMC Physiology, 2010, v. 10, p. 16, doi. 10.1186/1472-6793-10-16
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- Publication type:
- Article
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 7, p. 1310, doi. 10.1093/hmg/ddp030
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- Publication type:
- Article
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1063, doi. 10.1093/hmg/ddm379
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- Publication type:
- Article
Animal Models of Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 8, p. 1004, doi. 10.1177/0883073807305667
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- Publication type:
- Article
SMN Transcript Stability: Could Modulation of Messenger RNA Degradation Provide a Novel Therapy for Spinal Muscular Atrophy?
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 8, p. 1013, doi. 10.1177/0883073807305669
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- Publication type:
- Article
Regulation of murine survivalmotor neuron (Smn) protein levels by modifying Smn exon 7 splicing.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 23, p. 2727, doi. 10.1093/hmg/10.23.2727
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- Publication type:
- Article
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
- Published in:
- Annals of Neurology, 1997, v. 41, n. 2, p. 230, doi. 10.1002/ana.410410214
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- Publication type:
- Article