Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
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.
Published in Nature medicine (01.10.2021)
Published in Nature medicine (01.10.2021)
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Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
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
Published in Nature biotechnology (10.08.2011)
Published in Nature biotechnology (10.08.2011)
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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Porensky, Paul N., Mitrpant, Chalermchai, McGovern, Vicki L., Bevan, Adam K., Foust, Kevin D., Kaspar, Brain K., Wilton, Stephen D., Burghes, Arthur H.M.
Published in Human molecular genetics (01.04.2012)
Published in Human molecular genetics (01.04.2012)
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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
Gabanella, Francesca, Butchbach, Matthew E R, Saieva, Luciano, Carissimi, Claudia, Burghes, Arthur H M, Pellizzoni, Livio
Published in PloS one (26.09.2007)
Published in PloS one (26.09.2007)
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Journal Article
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy
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.
Published in Scientific reports (26.06.2023)
Published in Scientific reports (26.06.2023)
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Journal Article
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.
Published in American journal of human genetics (01.09.2009)
Published in American journal of human genetics (01.09.2009)
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Temporal requirement for high SMN expression in SMA mice
LE, Thanh T, MCGOVERN, Vicki L, ALWINE, Isaac E, XUEYONG WANG, MASSONI-LAPORTE, Aurelie, RICH, Mark M, BURGHES, Arthur H. M
Published in Human molecular genetics (15.09.2011)
Published in Human molecular genetics (15.09.2011)
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Journal Article
Survival Motor Neuron Function in Motor Axons Is Independent of Functions Required for Small Nuclear Ribonucleoprotein Biogenesis
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
Published in The Journal of neuroscience (25.10.2006)
Published in The Journal of neuroscience (25.10.2006)
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Journal Article
Embryonic motor axon development in the severe SMA mouse
McGovern, Vicki L., Gavrilina, Tatiana O., Beattie, Christine E., Burghes, Arthur H.M.
Published in Human molecular genetics (15.09.2008)
Published in Human molecular genetics (15.09.2008)
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Journal Article
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
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.
Published in Human molecular genetics (15.04.2008)
Published in Human molecular genetics (15.04.2008)
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Journal Article
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
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.
Published in Human molecular genetics (01.02.2010)
Published in Human molecular genetics (01.02.2010)
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Journal Article
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Workman, Eileen, Saieva, Luciano, Carrel, Tessa L., Crawford, Thomas O., Liu, Don, Lutz, Cathleen, Beattie, Christine E., Pellizzoni, Livio, Burghes, Arthur H.M.
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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Journal Article
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
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.
Published in Annals of neurology (01.11.2003)
Published in Annals of neurology (01.11.2003)
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Journal Article
Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates
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
Published in Molecular therapy (01.03.2015)
Published in Molecular therapy (01.03.2015)
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Journal Article
Synthesis and Biological Evaluation of Novel 2,4-Diaminoquinazoline Derivatives as SMN2 Promoter Activators for the Potential Treatment of Spinal Muscular Atrophy
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
Published in Journal of medicinal chemistry (14.02.2008)
Published in Journal of medicinal chemistry (14.02.2008)
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Journal Article
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
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
Published in Nature biotechnology (01.03.2010)
Published in Nature biotechnology (01.03.2010)
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Journal Article
Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy
Mitrpant, Chalermchai, Porensky, Paul, Zhou, Haiyan, Price, Loren, Muntoni, Francesco, Fletcher, Sue, Wilton, Steve D, Burghes, Arthur H M
Published in PloS one (22.04.2013)
Published in PloS one (22.04.2013)
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Journal Article
Natural history of infantile‐onset spinal muscular atrophy
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.
Published in Annals of neurology (01.12.2017)
Published in Annals of neurology (01.12.2017)
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