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Matthew E.R. Butchbach | Researchclopedia

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Matthew E.R. Butchbach

University of Delaware ORCID

48

Works

3,164

Citations

22

h-index

30

i10-index

Research Topics

Neurogenetic and Muscular Disorders Research RNA modifications and cancer Congenital Anomalies and Fetal Surgery

Affiliations

DuPont (United States)2023–2023

Alfred I. duPont Hospital for Children2014–2022

deCODE Genetics (Iceland)2008–2008

Thomas Jefferson University2014–2023

University of Cambridge2019–2019

Top Works

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Thanh T. Le,Lan T. Pham,et al.

2005595 citations

RNA Research and Splicing

Muscle Physiology and Disorders

NF-ÎºBâ€“mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia

Wei He,Emanuele Berardi,et al.

2013350 citations

Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

Swarnali Acharyya,Matthew E.R. Butchbach,et al.

2005320 citations

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

Francesca Gabanella,Matthew E.R. Butchbach,et al.

2007301 citations

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

Matthew E.R. Butchbach

2016185 citations

Association of Excitatory Amino Acid Transporters, Especially EAAT2, with Cholesterol-rich Lipid Raft Microdomains

Matthew E.R. Butchbach,Guilian Tian,et al.

2004164 citations

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Xiao Chen,Alba Sanchis‐Juan,et al.

2020141 citations

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

Matthew E.R. Butchbach,J. J. Singh,et al.

2009119 citations

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

Matthew E.R. Butchbach,Jonathan Edwards,et al.

2007110 citations