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

por Rao, Vamshi K., DiDonato, Christine J., Larsen, Paul D.
Publicado 2018

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

por Heier, Christopher R, Hampton, Thomas G, Wang, Deli, DiDonato, Christine J
Publicado 2010

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

por Ojala, Kristine S., Reedich, Emily J., DiDonato, Christine J., Meriney, Stephen D.
Publicado 2021

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

por McGrattan, Katlyn Elizabeth, Graham, Robert J., DiDonato, Christine J., Darras, Basil T.
Publicado 2021

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

por Hammond, Suzan M., Gogliotti, Rocky G., Rao, Vamshi, Beauvais, Ariane, Kothary, Rashmi, DiDonato, Christine J.
Publicado 2010

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

por Keil, Jeffrey M, Seo, Joonbae, Howell, Matthew D, Hsu, Walter H, Singh, Ravindra N, DiDonato, Christine J
Publicado 2014

Absence of UCHL 1 function leads to selective motor neuropathy

por Genç, Barış, Jara, Javier H., Schultz, Megan C., Manuel, Marin, Stanford, Macdonell J., Gautam, Mukesh, Klessner, Jodi L., Sekerkova, Gabriella, Heller, Daniel B., Cox, Gregory A., Heckman, Charles J., DiDonato, Christine J., Özdinler, P. Hande
Publicado 2016

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

por Cherry, Jonathan J., DiDonato, Christine J., Androphy, Elliot J., Calo, Alessandro, Potter, Kyle, Custer, Sara K., Du, Sarah, Foley, Timothy L., Gopalsamy, Ariamala, Reedich, Emily J., Gordo, Susana M., Gordon, William, Hosea, Natalie, Jones, Lyn H., Krizay, Daniel K., LaRosa, Gregory, Li, Hongxia, Mathur, Sachin, Menard, Carol A., Patel, Paraj, Ramos-Zayas, Rebeca, Rietz, Anne, Rong, Haojing, Zhang, Baohong, Tones, Michael A.
Publicado 2017