Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? von Burghes, Arthur H. M, Beattie, Christine E

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Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue von Thomsen, Gretchen, Burghes, Arthur H. M., Hsieh, Caroline, Do, Janet, Chu, Binh T. T., Perry, Stephanie, Barkho, Basam, Kaufmann, Petra, Sproule, Douglas M., Feltner, Douglas E., Chung, Wendy K., McGovern, Vicki L., Hevner, Robert F., Conces, Miriam, Pierson, Christopher R., Scoto, Mariacristina, Muntoni, Francesco, Mendell, Jerry R., Foust, Kevin D.

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Astrocytes from familial and sporadic ALS patients are toxic to motor neurons von Kaspar, Brian K, 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

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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse von Porensky, Paul N., Mitrpant, Chalermchai, McGovern, Vicki L., Bevan, Adam K., Foust, Kevin D., Kaspar, Brain K., Wilton, Stephen D., Burghes, Arthur H.M.

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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs von Gabanella, Francesca, Butchbach, Matthew E R, Saieva, Luciano, Carissimi, Claudia, Burghes, Arthur H M, Pellizzoni, Livio

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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene von Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.

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Temporal requirement for high SMN expression in SMA mice von LE, Thanh T, MCGOVERN, Vicki L, ALWINE, Isaac E, XUEYONG WANG, MASSONI-LAPORTE, Aurelie, RICH, Mark M, BURGHES, Arthur H. M

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Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy von 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.

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Embryonic motor axon development in the severe SMA mouse von McGovern, Vicki L., Gavrilina, Tatiana O., Beattie, Christine E., Burghes, Arthur H.M.

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect von Gavrilina, Tatiana O., McGovern, Vicki L., Workman, Eileen, Crawford, Thomas O., Gogliotti, Rocky G., DiDonato, Christine J., Monani, Umrao R., Morris, Glenn E., Burghes, Arthur H.M.

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Survival Motor Neuron Function in Motor Axons Is Independent of Functions Required for Small Nuclear Ribonucleoprotein Biogenesis von Carrel, Tessa L, McWhorter, Michelle L, Workman, Eileen, Zhang, Honglai, Wolstencroft, Elizabeth C, Lorson, Christian, Bassell, Gary J, Burghes, Arthur H. M, Beattie, Christine E

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Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN von Kaspar, Brian K, Foust, Kevin D, Wang, Xueyong, McGovern, Vicki L, Braun, Lyndsey, Bevan, Adam K, Haidet, Amanda M, Le, Thanh T, Morales, Pablo R, Rich, Mark M, Burghes, Arthur H M

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Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates von Meyer, Kathrin, Ferraiuolo, Laura, Schmelzer, Leah, Braun, Lyndsey, McGovern, Vicki, Likhite, Shibi, Michels, Olivia, Govoni, Alessandra, Fitzgerald, Julie, Morales, Pablo, Foust, Kevin D, Mendell, Jerry R, Burghes, Arthur H M, Kaspar, Brian K

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy von Butchbach, Matthew E.R., Singh, Jasbir, Þorsteinsdóttir, Margrét, Saieva, Luciano, Slominski, Elzbieta, Thurmond, John, Andrésson, Thorkell, Zhang, Jun, Edwards, Jonathan D., Simard, Louise R., Pellizzoni, Livio, Jarecki, Jill, Burghes, Arthur H.M., Gurney, Mark E.

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice von Workman, Eileen, Saieva, Luciano, Carrel, Tessa L., Crawford, Thomas O., Liu, Don, Lutz, Cathleen, Beattie, Christine E., Pellizzoni, Livio, Burghes, Arthur H.M.

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Valproic acid increases SMN levels in spinal muscular atrophy patient cells von Sumner, Charlotte J., Huynh, Thanh N., Markowitz, Jennifer A., Perhac, J. Stephen, Hill, Brenna, Coovert, Daniel D., Schussler, Kristie, Chen, Xiaocun, Jarecki, Jill, Burghes, Arthur H. M., Taylor, J. Paul, Fischbeck, Kenneth H.

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Natural history of infantile‐onset spinal muscular atrophy von 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, 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, Iannaccone, Susan T., 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.

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A large animal model of spinal muscular atrophy and correction of phenotype von Duque, Sandra I., Arnold, W. David, Odermatt, Philipp, Li, Xiaohui, Porensky, Paul N., Schmelzer, Leah, Meyer, Kathrin, Kolb, Stephen J., Schümperli, Daniel, Kaspar, Brian K., Burghes, Arthur H. M.

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Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives as SMN2 Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy von Thurmond, John, Butchbach, Matthew E. R, Palomo, Marty, Pease, Brian, Rao, Munagala, Bedell, Louis, Keyvan, Monica, Pai, Grace, Mishra, Rama, Haraldsson, Magnus, Andresson, Thorkell, Bragason, Gisli, Thosteinsdottir, Margret, Bjornsson, Jon Mar, Coovert, Daniel D, Burghes, Arthur H. M, Gurney, Mark E, Singh, Jasbir

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What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective von Blatnik, Anton J., McGovern, Vicki L., Burghes, Arthur H. M.

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