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

by Matthew E R Butchbach, Matthew E R Butchbach, Matthew E R Butchbach, Matthew E R Butchbach
Published 2016-03-01

Genomic Variability in the Survival Motor Neuron Genes (<i>SMN1</i> and <i>SMN2</i>): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

by Matthew E. R. Butchbach
Published 2021-07-01

Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy

by Matthew E.R. Butchbach, Jonathan D. Edwards, Arthur H.M. Burghes
Published 2007-08-01

Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy.

by Sean G Mack, Daniel J Cook, Prasad Dhurjati, Matthew E R Butchbach
Published 2014-01-01

The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.

by Cinsley Gentillon, Andrew J Connell, Ryan W Kirk, Matthew E R Butchbach
Published 2017-01-01

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.

by Francesca Gabanella, Matthew E R Butchbach, Luciano Saieva, Claudia Carissimi, Arthur H M Burghes, Livio Pellizzoni
Published 2007-09-01

Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.

by Miho Maeda, Ashlee W Harris, Brewster F Kingham, Casey J Lumpkin, Lynn M Opdenaker, Suzanne M McCahan, Wenlan Wang, Matthew E R Butchbach
Published 2014-01-01