Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene

por Hao, Le T, Burghes, Arthur HM, Beattie, Christine E
Publicado 2011

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective

por Blatnik, Anton J., McGovern, Vicki L., Burghes, Arthur H. M.
Publicado 2021

Genomic organization and alternative splicing of the human and mouse RPTPρ genes

por Besco, Julie A, Frostholm, Adrienne, Popesco, Magdalena C, Burghes, Arthur HM, Rotter, Andrej
Publicado 2001

Genomic organization and alternative splicing of the human and mouse RPTPρ genes: Correction

por Besco, Julie A, Frostholm, Adrienne, Popesco, Magdalena C, Burghes, Arthur HM, Rotter, Andrej
Publicado 2001

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

por McWhorter, Michelle L., Monani, Umrao R., Burghes, Arthur H.M., Beattie, Christine E.
Publicado 2003

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

por Kayadjanian, Nathalie, Burghes, Arthur, Finkel, Richard S, Mercuri, Eugenio, Rouault, Francoise, Schwersenz, Inge, Talbot, Kevin
Publicado 2013

Translation reinitiation after uORFs does not fully protect mRNAs from nonsense-mediated decay

por Russell, Paul J., Slivka, Jacob A., Boyle, Elaina P., Burghes, Arthur H.M., Kearse, Michael G.
Publicado 2023

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

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

por Hao, Le thi, Fuller, Heidi R, Lam, Le Thanh, Le, Thanh T, Burghes, Arthur HM, Morris, Glenn E
Publicado 2007

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

por Arnold, W. David, Sheth, Kajri A., Wier, Christopher G., Kissel, John T., Burghes, Arthur H., Kolb, Stephen J.
Publicado 2015

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

por Mitrpant, Chalermchai, Porensky, Paul, Zhou, Haiyan, Price, Loren, Muntoni, Francesco, Fletcher, Sue, Wilton, Steve D., Burghes, Arthur H. M.
Publicado 2013

Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy

por Day, John W., Mendell, Jerry R., Burghes, Arthur H.M., van Olden, Rudolf W., Adhikary, Rishi R., Dilly, Keith W.
Publicado 2023

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

por McGovern, Vicki L., Massoni-Laporte, Aurélie, Wang, Xueyong, Le, Thanh T., Le, Hao T., Beattie, Christine E., Rich, Mark M., Burghes, Arthur H. M.
Publicado 2015

In-depth comparison of Anc80L65 and AAV9 retinal targeting and characterization of cross-reactivity to multiple AAV serotypes in humans

por Schwartz, Maura K., Likhite, Shibi, Vetter, Tatyana A., Baird, Megan C., McGovern, Vicki, Sierra Delgado, Andrea, Mendel, Tom, Burghes, Arthur, Meyer, Kathrin C.
Publicado 2023

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

Muscle strength and size are associated with motor unit connectivity in aged mice

por Sheth, Kajri A., Iyer, Chitra C., Wier, Christopher G., Crum, Alexander E., Bratasz, Anna, Kolb, Stephen J., Clark, Brian C., Burghes, Arthur H.M., Arnold, W. David
Publicado 2018

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy

por Monani, Umrao R., Pastore, Matthew T., Gavrilina, Tatiana O., Jablonka, Sibylle, Le, Thanh T., Andreassi, Catia, DiCocco, Jennifer M., Lorson, Christian, Androphy, Elliot J., Sendtner, Michael, Podell, Michael, Burghes, Arthur H.M.
Publicado 2003

Electrophysiological biomarkers in spinal muscular atrophy: proof of concept

por David Arnold, W, Porensky, Paul N, McGovern, Vicki L, Iyer, Chitra C, Duque, Sandra, Li, Xiaobai, Meyer, Kathrin, Schmelzer, Leah, Kaspar, Brian K, Kolb, Stephen J, Kissel, John T, Burghes, Arthur H M
Publicado 2014

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

por Arnold, W. David, Duque, Sandra, Iyer, Chitra C., Zaworski, Phillip, McGovern, Vicki L., Taylor, Shannon J., von Herrmann, Katharine M., Kobayashi, Dione T., Chen, Karen S., Kolb, Stephen J., Paushkin, Sergey V., Burghes, Arthur H. M.
Publicado 2016

Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen

por Arnold, W David, Severyn, Steven, Zhao, Songzhu, Kline, David, Linsenmayer, Matthew, Kelly, Kristina, Tellez, Marco, Bartlett, Amy, Heintzman, Sarah, Reynolds, Jerry, Sterling, Gary, Weaver, Tristan, Rajneesh, Kiran, Burghes, Arthur H M, Kolb, Stephen J, Elsheikh, Bakri
Publicado 2021