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Matthew E R Butchbach

6PUBLICATIONS

11CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesBiologically active molecules

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Publications (6)

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|Jun 24, 2022

Comprehensive In Silico Analysis of Retrotransposon Insertions within the <i>Survival Motor Neuron</i> Genes Involved in Spinal Muscular Atrophy.

Albano Pinto, Catarina Cunha, Raquel Chaves

|Jun 06, 2022

Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on <i>Survival Motor Neuron 2</i> (<i>SMN2</i>) mRNA Splicing and Expression.

Sambee Kanda, Emily Moulton, Matthew E R Butchbach

|Aug 07, 2021

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

Matthew E R Butchbach

|Jan 08, 2021

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

Deborah L Stabley, Jennifer Holbrook, Mena Scavina

|Feb 19, 2020

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

Xiao Chen, Alba Sanchis-Juan, Courtney E French

|Jun 30, 2017

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

Cinsley Gentillon, Andrew J Connell, Ryan W Kirk

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Frequent Collaborators

1 joint publications

Xiao Chen

1 joint publications

Michael A Eberle

1 joint publications

Deborah L Stabley

1 joint publications

Jennifer Holbrook

1 joint publications

Thomas O Crawford

1 joint publications

Kathryn J Swoboda

1 joint publications

Katherine M Robbins

1 joint publications

Emily Moulton

1 joint publications

Albano Pinto

1 joint publications

Catarina Cunha

Frequent Collaborators

1 joint publications

Xiao Chen

1 joint publications

Michael A Eberle

1 joint publications

Deborah L Stabley

1 joint publications

Jennifer Holbrook

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