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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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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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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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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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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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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Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS von Meyer, Kathrin, Ferraiuolo, Laura, Miranda, Carlos J., Likhite, Shibi, McElroy, Sohyun, Renusch, Samantha, Ditsworth, Dara, Lagier-Tourenne, Clotilde, Smith, Richard A., Ravits, John, Burghes, Arthur H., Shaw, Pamela J., Cleveland, Don W., Kolb, Stephen J., Kaspar, Brian K.

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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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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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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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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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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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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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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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Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders von Bevan, Adam K, Duque, Sandra, Foust, Kevin D, Morales, Pablo R, Braun, Lyndsey, Schmelzer, Leah, Chan, Curtis M, McCrate, Mary, Chicoine, Louis G, Coley, Brian D, Porensky, Paul N, Kolb, Stephen J, Mendell, Jerry R, Burghes, Arthur HM, 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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Translation reinitiation after uORFs does not fully protect mRNAs from nonsense-mediated decay von Russell, Paul J, Slivka, Jacob A, Boyle, Elaina P, Burghes, Arthur H M, Kearse, Michael G

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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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