Matthew E R Butchbach

Affiliations

Division of Neurology, Nemours Children's Hospital Delaware, Wilmington, Delaware (S.K., E.M., M.E.R.B.); Department of Biological Sciences, University of Delaware, Newark, Delaware (S.K., M.E.R.B.); Center for Pediatric Research, Nemours Biomedical Research, Nemours Children's Hospital Delaware, Wilmington, Delaware (M.E.R.B.); and Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania (M.E.R.B.) matthew.butchbach@nemours.org.

ORCID: 0000-0003-2912-6400

Publications (8)

Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on

Molecular pharmacology

Avec: Sambee Kanda , Emily Moulton , Matthew E R Butchbach

Genomic Variability in the Survival Motor Neuron Genes (

International journal of molecular sciences

Avec: Matthew E R Butchbach

Comprehensive In Silico Analysis of Retrotransposon Insertions within the

Biology

Avec: Albano Pinto , Catarina Cunha , Raquel Chaves , Matthew E R Butchbach , Filomena Adega

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

Genetics in medicine : official journal of the American College of Medical Genetics

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

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.

Neurogenetics

Avec: Deborah L Stabley , Jennifer Holbrook , Mena Scavina , Thomas O Crawford , Kathryn J Swoboda , Katherine M Robbins , Matthew E R Butchbach

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

Scientific reports

Avec: Lingxia Jiang , Robert Lin , Steve Gallagher , Andrew Zayac , Matthew E R Butchbach , Paul Hung

Biological networks and complexity in early-onset motor neuron diseases.

Frontiers in neurology

Avec: Matthew E R Butchbach , Rod C Scott

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

Scientific reports

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

Réseau de co-auteurs

Andrew J Connell 2 collaborations

Sambee Kanda 1 collaboration

Emily Moulton 1 collaboration

Albano Pinto 1 collaboration

Catarina Cunha 1 collaboration

Raquel Chaves 1 collaboration

Filomena Adega 1 collaboration

Xiao Chen 1 collaboration

Alba Sanchis-Juan 1 collaboration

Courtney E French 1 collaboration

Isabelle Delon 1 collaboration

Zoya Kingsbury 1 collaboration

Aditi Chawla 1 collaboration

Aaron L Halpern 1 collaboration

Ryan J Taft 1 collaboration

None None 1 collaboration

David R Bentley 1 collaboration

F Lucy Raymond 1 collaboration

Michael A Eberle 1 collaboration

Deborah L Stabley 1 collaboration

Jennifer Holbrook 1 collaboration

Mena Scavina 1 collaboration

Thomas O Crawford 1 collaboration

Kathryn J Swoboda 1 collaboration

Katherine M Robbins 1 collaboration

Lingxia Jiang 1 collaboration

Robert Lin 1 collaboration

Steve Gallagher 1 collaboration

Andrew Zayac 1 collaboration

Paul Hung 1 collaboration

Rod C Scott 1 collaboration

Casey J Lumpkin 1 collaboration

Ashlee W Harris 1 collaboration

Ryan W Kirk 1 collaboration

Joshua A Whiting 1 collaboration

Luciano Saieva 1 collaboration

Livio Pellizzoni 1 collaboration

Arthur H M Burghes 1 collaboration