| Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect TO Gavrilina, VL McGovern, E Workman, TO Crawford, RG Gogliotti, ... Human molecular genetics 17 (8), 1063-1075, 2008 | 249 | 2008 |
| Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice CR Heier, R Satta, C Lutz, CJ DiDonato Human molecular genetics 19 (20), 3906-3918, 2010 | 221 | 2010 |
| Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction RG Gogliotti, KA Quinlan, CB Barlow, CR Heier, CJ Heckman, ... Journal of Neuroscience 32 (11), 3818-3829, 2012 | 199 | 2012 |
| SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1 PJ Young, CJ DiDonato, D Hu, R Kothary, EJ Androphy, CL Lorson Human molecular genetics 11 (5), 577-587, 2002 | 179 | 2002 |
| Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene CJ DiDonato, XN Chen, D Noya, JR Korenberg, JH Nadeau, LR Simard Genome research 7 (4), 339-352, 1997 | 168 | 1997 |
| Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo CR Heier, CJ DiDonato Human molecular genetics 18 (7), 1310-1322, 2009 | 155 | 2009 |
| Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? CJ Didonato, SE Ingraham, JR Mendell, TW Prior, S Lenard, RT Moxley III, ... Annals of Neurology: Official Journal of the American Neurological …, 1997 | 131 | 1997 |
| Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs B Wirth, E Hahnen, K Morgan, CJ DiDonato, A Dadze, ... Human molecular genetics 4 (8), 1273-1284, 1995 | 128 | 1995 |
| A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients TG Thompson, CJ DiDonato, LR Simard, SE Ingraham, AHM Burghes, ... Nature genetics 9 (1), 56, 1995 | 110 | 1995 |
| Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy CJ DiDonato, K Morgan, JD Carpten, P Fuerst, SE Ingraham, G Prescott, ... American journal of human genetics 55 (6), 1218, 1994 | 103 | 1994 |
| The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models RG Gogliotti, H Cardona, J Singh, S Bail, C Emery, N Kuntz, M Jorgensen, ... Human molecular genetics 22 (20), 4084-4101, 2013 | 92 | 2013 |
| Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late SM Hammond, RG Gogliotti, V Rao, A Beauvais, R Kothary, CJ DiDonato PloS one 5 (12), e15887, 2010 | 84 | 2010 |
| Animal models of spinal muscular atrophy A Schmid, CJ DiDonato Journal of child neurology 22 (8), 1004-1012, 2007 | 75 | 2007 |
| Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing CJ DiDonato, CL Lorson, Y De Repentigny, L Simard, C Chartrand, ... Human molecular genetics 10 (23), 2727-2736, 2001 | 67 | 2001 |
| A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene AHM Burghes, SE Ingraham, M McLean, TG Thompson, JD McPherson, ... Genomics 21 (2), 394-402, 1994 | 66 | 1994 |
| Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy NN Singh, BM Lee, CJ DiDonato, RN Singh Future medicinal chemistry 7 (13), 1793-1808, 2015 | 65 | 2015 |
| Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions FV Kostova, VC Williams, J Heemskerk, S Iannaccone, C DiDonato, ... Journal of child neurology 22 (8), 926-945, 2007 | 64 | 2007 |
| Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy RG Gogliotti, SM Hammond, C Lutz, CJ DiDonato Biochemical and biophysical research communications 391 (1), 517-522, 2010 | 60 | 2010 |
| A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region JD Carpten, CJ DiDonato, SE Ingraham, C Wagner-McPherson, ... Genomics 24 (2), 351-356, 1994 | 58 | 1994 |
| A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy JM Keil, J Seo, MD Howell, WH Hsu, RN Singh, CJ DiDonato Molecular Therapy-Nucleic Acids 3, 2014 | 53 | 2014 |
