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Combination molecular therapies for type 1 spinal muscular atrophy

Muscle & nerve, 2020-10, Vol.62 (4), p.550-554

2020

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Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

Human molecular genetics, 2009-04, Vol.18 (7), p.1310-1322

2009

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The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

Human molecular genetics, 2013-10, Vol.22 (20), p.4084-4101

2013

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In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Brain sciences, 2021-02, Vol.11 (2), p.194

2021

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Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

PloS one, 2010-12, Vol.5 (12), p.e15887-e15887

2010

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Dissociation of hepatic insulin resistance from susceptibility of nonalcoholic fatty liver disease induced by a high-fat and high-carbohydrate diet in mice

American journal of physiology: Gastrointestinal and liver physiology, 2014-03, Vol.306 (6), p.G496-G504

2014

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Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

Human molecular genetics, 2010-10, Vol.19 (20), p.3906-3918

2010

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Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy

Biochemical and biophysical research communications, 2010-01, Vol.391 (1), p.517-522

2010

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A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy

Molecular therapy. Nucleic acids, 2014-07, Vol.3 (7), p.e174-e174, Article e174

2014

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Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice

Neurobiology of disease, 2011-07, Vol.43 (1), p.142-151

2011

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Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction

The Journal of neuroscience, 2012-03, Vol.32 (11), p.3818-3829

2012

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Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

American journal of speech-language pathology, 2021-06, Vol.30 (3), p.1008-1022

2021

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Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn2B/− mouse model of spinal muscular atrophy

Experimental neurology, 2021-03, Vol.337, p.113587-113587, Article 113587

2021

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Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case reports in neurological medicine, 2018-01, Vol.2018 (2018), p.1-5

2018

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Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy

Future medicinal chemistry, 2015-09, Vol.7 (13), p.1793-1808

2015

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Human molecular genetics, 2008-04, Vol.17 (8), p.1063-1075

2008

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Animal Models of Spinal Muscular Atrophy

Journal of child neurology, 2007-08, Vol.22 (8), p.1004-1012

2007

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Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen

Journal of neuromuscular diseases, 2023-01, Vol.10 (3), p.337-348

2023

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ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy

Frontiers in bioscience (Elite edition), 2015-01, Vol.7 (1), p.122-133, Article 721

DiDonato, Christine J

2015

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ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy

Frontiers in bioscience (Elite edition), 2015-01, Vol.7 (1), p.107

2015

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Antisense oligonucleotide mediated therapy of spinal muscular atrophy

Translational neuroscience, 2013-03, Vol.4 (1), p.1-7

2013

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SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1

Human molecular genetics, 2002-03, Vol.11 (5), p.577-587

2002

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Absence of UCHL 1 function leads to selective motor neuropathy

Annals of clinical and translational neurology, 2016-05, Vol.3 (5), p.331-345

2016

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Development of electrocardiogram intervals during growth of FVB/N neonate mice

BMC physiology, 2010-08, Vol.10 (1), p.16-16, Article 16

2010

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Combination molecular therapies for type 1 spinal muscular atrophy

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

Dissociation of hepatic insulin resistance from susceptibility of nonalcoholic fatty liver disease induced by a high-fat and high-carbohydrate diet in mice

In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy

A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy

Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice

Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn2B/− mouse model of spinal muscular atrophy

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Animal Models of Spinal Muscular Atrophy

Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen

ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy

ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy

Antisense oligonucleotide mediated therapy of spinal muscular atrophy

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1

Absence of UCHL 1 function leads to selective motor neuropathy

Development of electrocardiogram intervals during growth of FVB/N neonate mice

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