C. DiDonato

发表

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

C. Heier, C. DiDonato, 2009, Human molecular genetics.

Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz

B. Sanchez, S. Rutkove, J. Nagy, 2019, Scientific Data.

Oscillations in Hb9-Expressing Interneurons Sensory Modulation of Locomotor-Like Membrane

G. Mentis, M. Hurteau, Y. Thibaudier, 2015 .

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.

C. Lorson, E. Androphy, R. Kothary, 2002, Human molecular genetics.

Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn 2B/− mouse model of spinal muscular atrophy

C. DiDonato, G. Cox, E. Reedich, 2020, Experimental Neurology.

Absence of UCHL 1 function leads to selective motor neuropathy

C. Heckman, C. DiDonato, J. H. Jara, 2016, Annals of clinical and translational neurology.

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

C. DiDonato, M. Rao, P. Chou, 2014, American journal of physiology. Gastrointestinal and liver physiology.

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

C. Lutz, C. DiDonato, S. Koh, 2011, Neurobiology of Disease.

Mammalian Models of Spinal Muscular Atrophy

W. Arnold, C. DiDonato, V. McGovern, 2017 .

Association between Ag I -CA Alleles and Severity of Autosomal Recessive Proximal Spinal Muscular Atrophy

J. Carpten, J. Mendell, L. Simard, 2007 .

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

C. DiDonato, W. Hsu, Joonbae Seo, 2014, Molecular therapy. Nucleic acids.

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn)

L. Simard, C. DiDonato, Thierry Brun, 1999, Mammalian Genome.

Genotyping protocols for commonly used SMA model mice

C. DiDonato, M. Sendtner, A. Burghes, 2011 .

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

C. Lutz, C. DiDonato, S. Hammond, 2010, Biochemical and biophysical research communications.

A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.

J. Carpten, J. Wasmuth, C. DiDonato, 1994, Genomics.

Linkage mapping of the spinal muscular atrophy gene

J. Carpten, Z. Kote-Jarai, J. Mendell, 1994, Human Genetics.

Combination molecular therapies for type 1 spinal muscular atrophy

V. Stefans, C. DiDonato, V. Rao, 2020, Muscle & nerve.

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

C. Heier, C. DiDonato, 2015, Frontiers in bioscience.

SMN Transcript Stability: Could Modulation of Messenger RNA Degradation Provide a Novel Therapy for Spinal Muscular Atrophy?

C. Heier, C. DiDonato, R. Gogliotti, 2007, Journal of child neurology.

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

J. McPherson, J. Carpten, B. Wirth, 1994, American journal of human genetics.

Genetic and physical mapping of the mouse host resistance locus Lgn1

P. Gros, L. Simard, C. DiDonato, 1997, Mammalian Genome.

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing.

C. Lorson, E. Androphy, L. Simard, 2001, Human molecular genetics.

Antisense oligonucleotide mediated therapy of spinal muscular atrophy

C. DiDonato, M. D. Howell, S. Sivanesan, 2013, Translational neuroscience.

ANTISENSE OLIGONUCLEOTIDE MEDIATED THERAPY OF SPINAL

C. DiDonato, M. D. Howell, R. Lurie, 2013 .

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

K. Krosschell, C. DiDonato, V. Rao, 2023, Journal of neuromuscular diseases.

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

C. DiDonato, S. D. Meriney, E. Reedich, 2021, Brain sciences.

Hyperexcitability precedes motoneuron loss in the Smn2B/-mouse model of spinal muscular atrophy.

C. Heckman, W. Arnold, C. DiDonato, 2019, Journal of neurophysiology.

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

C. DiDonato, Brian M. Lee, R. Singh, 2015, Future medicinal chemistry.

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

Heather L. Plasterer, C. Heier, C. DiDonato, 2013, Human molecular genetics.

Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late

R. Kothary, C. DiDonato, S. Hammond, 2010, PloS one.

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

T. Crawford, U. Monani, C. DiDonato, 2008, Human molecular genetics.

Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy.

R. Kothary, C. DiDonato, R. Parks, 2003, Human gene therapy.

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

J. McPherson, J. Carpten, Z. Kote-Jarai, 1994, Genomics.

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

C. Heckman, C. Heier, C. DiDonato, 2012, The Journal of Neuroscience.

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

T. Crawford, J. Mendell, J. Wasmuth, 1995, Nature Genetics.

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

Timothy L. Foley, E. Androphy, Baohong Zhang, 2017, PloS one.

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.

J. Nadeau, X. Chen, J. Korenberg, 1997, Genome research.

Animal Models of Spinal Muscular Atrophy

C. DiDonato, A. Schmid, 2007, Journal of child neurology.

Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?

J. Mendell, R. Moxley, T. Prior, 1997, Annals of neurology.

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1995, Human molecular genetics.

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

C. Lutz, C. Heier, C. DiDonato, 2010, Human molecular genetics.

The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13

J. Nadeau, L. Simard, C. DiDonato, 1997, Mammalian Genome.

Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions

J. Heemskerk, B. Maria, Virginia C Williams, 2007, Journal of child neurology.

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

C. Heier, C. DiDonato, T. Hampton, 2010, BMC Physiology.

Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz

B. Sanchez, S. Rutkove, J. Nagy, 2019, Scientific Data.

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

C. DiDonato, B. Darras, K. McGrattan, 2021, American journal of speech-language pathology.

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

T. Crawford, B. Elsheikh, C. DiDonato, 2023, Journal of neuromuscular diseases.

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

C. DiDonato, P. Larsen, V. Rao, 2018, Case reports in neurological medicine.

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

Heather L. Plasterer, C. Heier, C. DiDonato, 2013, Human molecular genetics.

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

C. Lutz, C. DiDonato, S. Hammond, 2010, Biochemical and biophysical research communications.