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

por Butchbach, Matthew E. R.
Publicado 2016

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

por Butchbach, Matthew E.R.
Publicado 2016

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

por Butchbach, Matthew E. R.
Publicado 2021

Biological networks and complexity in early-onset motor neuron diseases

por Butchbach, Matthew E. R., Scott, Rod C.
Publicado 2022

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

por Mack, Sean G., Cook, Daniel J., Dhurjati, Prasad, Butchbach, Matthew E. R.
Publicado 2014

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

por Gentillon, Cinsley, Connell, Andrew J., Kirk, Ryan W., Butchbach, Matthew E. R.
Publicado 2017

Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy

por Pinto, Albano, Cunha, Catarina, Chaves, Raquel, Butchbach, Matthew E. R., Adega, Filomena
Publicado 2022

Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument

por Jiang, Lingxia, Lin, Robert, Gallagher, Steve, Zayac, Andrew, Butchbach, Matthew E. R., Hung, Paul
Publicado 2020

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

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

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

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

Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy

por Lumpkin, Casey J., Harris, Ashlee W., Connell, Andrew J., Kirk, Ryan W., Whiting, Joshua A., Saieva, Luciano, Pellizzoni, Livio, Burghes, Arthur H. M., Butchbach, Matthew E. R.
Publicado 2023

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

por 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
Publicado 2015

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

por Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.
Publicado 2020