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

by Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen
Published 2018-01-01

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

by Kristine S. Ojala, Emily J. Reedich, Christine J. DiDonato, Stephen D. Meriney
Published 2021-02-01

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

by Rocky G. Gogliotti, Cathleen Lutz, Michael Jorgensen, Kimberly Huebsch, Sookyong Koh, Christine J. DiDonato
Published 2011-07-01

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

by Suzan M Hammond, Rocky G Gogliotti, Vamshi Rao, Ariane Beauvais, Rashmi Kothary, Christine J DiDonato
Published 2010-12-01

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

by Jeffrey M Keil, Joonbae Seo, Matthew D Howell, Walter H Hsu, Ravindra N Singh, Christine J DiDonato
Published 2014-01-01

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

by Jonathan J Cherry, Christine J DiDonato, Elliot J Androphy, Alessandro Calo, Kyle Potter, Sara K Custer, Sarah Du, Timothy L Foley, Ariamala Gopalsamy, Emily J Reedich, Susana M Gordo, William Gordon, Natalie Hosea, Lyn H Jones, Daniel K Krizay, Gregory LaRosa, Hongxia Li, Sachin Mathur, Carol A Menard, Paraj Patel, Rebeca Ramos-Zayas, Anne Rietz, Haojing Rong, Baohong Zhang, Michael A Tones
Published 2017-01-01