Applicability of digital PCR to the investigation of pediatric-onset genetic disorders

by Butchbach, Matthew E.R.
Published 2016

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

by Butchbach, Matthew E. R.
Published 2016

Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

by Gabanella, Francesca, Butchbach, Matthew E. R., Saieva, Luciano, Carissimi, Claudia, Burghes, Arthur H. M., Pellizzoni, Livio
Published 2007

Systems Biology Investigation of cAMP Modulation to Increase SMN Levels for the Treatment of Spinal Muscular Atrophy

by Mack, Sean G., Cook, Daniel J., Dhurjati, Prasad, Butchbach, Matthew E. R.
Published 2014

Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells

by Maeda, Miho, Harris, Ashlee W., Kingham, Brewster F., Lumpkin, Casey J., Opdenaker, Lynn M., McCahan, Suzanne M., Wang, Wenlan, Butchbach, Matthew E. R.
Published 2014

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

by Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Published 2015