Search Results - "McGovern, Vicki"

Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice by Kray, Kaitlyn M., McGovern, Vicki L., Chugh, Deepti, Arnold, W. David, Burghes, Arthur H.M.

“…Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which results in motor neuron…”
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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse by Porensky, Paul N., Mitrpant, Chalermchai, McGovern, Vicki L., Bevan, Adam K., Foust, Kevin D., Kaspar, Brain K., Wilton, Stephen D., Burghes, Arthur H.M.

“…Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by α-motor neuron loss in the spinal cord anterior horn. SMA results from…”
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Natural history of infantile‐onset spinal muscular atrophy by 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.

“…Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2…”
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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 by 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

“…Spinal muscular atrophy (SMA) is the most frequent lethal genetic neurodegenerative disorder in infants. The disease is caused by low abundance of the survival…”
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Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue by 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.

“…Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting from survival motor neuron 1 gene ( SMN1 ) deletion/mutation…”
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Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN by 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

“…Spinal muscular atrophy (SMA), the most common autosomal recessive neurodegenerative disease affecting children, results in impaired motor neuron function…”
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What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective by Blatnik, 3rd, Anton J, McGovern, Vicki L, Burghes, Arthur H M

“…Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by motor neuron loss and subsequent atrophy of…”
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Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery by Bevan, Adam K., Hutchinson, Kirk R., Foust, Kevin D., Braun, Lyndsey, McGovern, Vicki L., Schmelzer, Leah, Ward, Jennifer G., Petruska, Jeffrey C., Lucchesi, Pamela A., Burghes, Arthur H.M., Kaspar, Brian K.

“…Proximal spinal muscular atrophy (SMA) is a debilitating neurological disease marked by isolated lower motor neuron death and subsequent atrophy of skeletal…”
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A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy by Ruggiu, Matteo, McGovern, Vicki L., Lotti, Francesco, Saieva, Luciano, Li, Darrick K., Kariya, Shingo, Monani, Umrao R., Burghes, Arthur H. M., Pellizzoni, Livio

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Conditional deletion of SMN in cell culture identifies functional SMN alleles by Blatnik, Anton J, McGovern, Vicki L, Le, Thanh T, Iyer, Chitra C, Kaspar, Brian K, Burghes, Arthur H M

“…Abstract Spinal muscular atrophy (SMA) is caused by mutation or deletion of survival motor neuron 1 (SMN1) and retention of SMN2 leading to SMN protein…”
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The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy by Arnold, W, McGovern, Vicki L, Sanchez, Benjamin, Li, Jia, Corlett, Kaitlyn M, Kolb, Stephen J, Rutkove, Seward B, Burghes, Arthur H

“…Abstract Background Significant advances in the development of SMN-restoring therapeutics have occurred since 2010 when very effective biological treatments…”
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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype by Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H. M.

“…Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2…”
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Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN by 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., Kaspar, Brian K.

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SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA by McGovern, Vicki L, Iyer, Chitra C, Arnold, W David, Gombash, Sara E, Zaworski, Phillip G, Blatnik, 3rd, Anton J, Foust, Kevin D, Burghes, Arthur H M

“…Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that…”
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SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMN Delta 7 mouse model of SMA by McGovern, Vicki L, Iyer, Chitra C, Arnold, W David, Gombash, Sara E, Zaworski, Phillip G, Blatnik, Anton J, Foust, Kevin D, Burghes, Arthur HM

“…Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that…”
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Temporal requirement for high SMN expression in SMA mice by LE, Thanh T, MCGOVERN, Vicki L, ALWINE, Isaac E, XUEYONG WANG, MASSONI-LAPORTE, Aurelie, RICH, Mark M, BURGHES, Arthur H. M

“…Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron 1 gene (SMN1) and retention of the SMN2 gene, resulting in reduced SMN. SMA mice…”
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Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice by McGovern, Vicki L, Kray, Kaitlyn M, Arnold, W David, Duque, Sandra I, Iyer, Chitra C, Massoni-Laporte, Aurélie, Workman, Eileen, Patel, Aalapi, Battle, Daniel J, Burghes, Arthur H M

“…Abstract Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN…”
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Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration by 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

“…Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder. SMA is caused by homozygous loss of the SMN1 gene and retention of the SMN2 gene…”
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Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA by Iyer, Chitra C, McGovern, Vicki L, Murray, Jason D, Gombash, Sara E, Zaworski, Phillip G, Foust, Kevin D, Janssen, Paul M L, Burghes, Arthur H M

“…Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons. SMA is caused by deletion or mutation of the…”
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Mild SMN missense alleles are only functional in the presence of SMN2 in mammals by Iyer, Chitra C, Corlett, Kaitlyn M, Massoni-Laporte, Aurélie, Duque, Sandra I, Madabusi, Narasimhan, Tisdale, Sarah, McGovern, Vicki L, Le, Thanh T, Zaworski, Phillip G, Arnold, W David, Pellizzoni, Livio, Burghes, Arthur H M

“…Abstract Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor…”
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