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

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

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

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

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

Base editing rescue of spinal muscular atrophy in cells and in mice

por Arbab, Mandana, Matuszek, Zaneta, Kray, Kaitlyn M., Du, Ailing, Newby, Gregory A., Blatnik, Anton J., Raguram, Aditya, Richter, Michelle F., Zhao, Kevin T., Levy, Jonathan M., Shen, Max W., Arnold, W. David, Wang, Dan, Xie, Jun, Gao, Guangping, Burghes, Arthur H. M., Liu, David R.
Publicado 2023

Astrocytes from Familial and Sporadic ALS Patients are Toxic to Motor Neurons

por Haidet-Phillips, Amanda M., Hester, Mark E., Miranda, Carlos J., Meyer, Kathrin, Braun, Lyndsey, Frakes, Ashley, Song, SungWon, Likhite, Shibi, Murtha, Matthew J., Foust, Kevin D., Rao, Meghan, Eagle, Amy, Kammesheidt, Anja, Christensen, Ashley, Mendell, Jerry R., Burghes, Arthur H.M., Kaspar, Brian K.
Publicado 2011

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

por Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, Kissel, John T.
Publicado 2016