Publications
237
Citations
20,335
Est. group size
—
Recurring co-author estimate
Active years
46
Publishing since 1980
This researcher studies the genetics and molecular biology of neuromuscular diseases, especially spinal muscular atrophy (SMA), a genetic disorder that weakens muscles by affecting motor neurons in the spinal cord. Work spans understanding disease-causing gene mutations, RNA processing mechanisms, and developing gene-therapy approaches (using engineered viruses called AAV9) to deliver corrective genes to the nervous system and muscles. The research also touches on related conditions like Duchenne muscular dystrophy and titin-related heart/muscle diseases.
Publication output has declined from a peak of 17 papers in 2017 to a lower, more variable annual count in recent years, averaging about 2.6 per year over the last five years.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Sm-site containing mRNAs can accept Sm-rings and are downregulated in Spinal Muscular Atrophy
Nucleic Acids Research · 2025
- 700P Alternative delivery of adeno-associated virus 9 for the treatment of Duchenne muscular dystrophy to target CSF and muscles– GFP Biodistribution study in WT mice
Neuromuscular Disorders · 2024
- Sm-site containing mRNAs can accept Sm-rings and are downregulated in Spinal Muscular Atrophy
bioRxiv (Cold Spring Harbor Laboratory) · 2024
- Translation reinitiation after uORFs does not fully protect mRNAs from nonsense-mediated decay
RNA · 2023
- Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy
Molecular Therapy — Methods & Clinical Development · 2023
- P418 Dominant cardioskeletal titinopathies reflect distinct mechanisms of disease
Neuromuscular Disorders · 2023
- Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Nature Biotechnology · 2022
- Translation re-initiation after uORFs does not fully protect mRNAs from nonsense-mediated decay
bioRxiv (Cold Spring Harbor Laboratory) · 2022
- What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective
International Journal of Molecular Sciences · 2021
- Conditional deletion of SMN in cell culture identifies functional SMN alleles
Human Molecular Genetics · 2020
- SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
Neuromuscular Disorders · 2020
- A novel splice site mutation in a Becker muscular dystrophy patient.
UNC Libraries · 2020
- Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
Human Genetics · 2019
- 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands
Neuromuscular Disorders · 2019
- Withdrawal: Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.
Journal of Biological Chemistry · 2018
- Neuromuscular Disorders×12
- Neurology×8
- Human Molecular Genetics×4
- Neurobiology of Aging×3
- Elsevier eBooks×3
- Matthew E.R. Butchbach
Medicine · The Ohio State University
- Anton J. Blatnik
Medicine · The Ohio State University
- Megan A. Waldrop
Medicine · The Ohio State University
- Richard Shell
Medicine · The Ohio State University
- Sara K. Custer
Medicine · Indiana University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
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