Search Results - "Bricceno, Katherine V"

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics by Bricceno, Katherine V, Martinez, Tara, Leikina, Evgenia, Duguez, Stephanie, Partridge, Terence A, Chernomordik, Leonid V, Fischbeck, Kenneth H, Sumner, Charlotte J, Burnett, Barrington G

“…While spinal muscular atrophy (SMA) is characterized by motor neuron degeneration, it is unclear whether and how much survival motor neuron (SMN) protein…”
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Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice by BRICCENO, Katherine V, SAMPOGNARO, Paul J, VAN MEERBEKE, James P, SUMNER, Charlotte J, FISCHBECK, Kenneth H, BURNETT, Barrington G

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Neurogenic and myogenic contributions to hereditary motor neuron disease by Bricceno, Katherine V, Fischbeck, Kenneth H, Burnett, Barrington G

“…Spinal muscular atrophy and spinal and bulbar muscular atrophy are characterized by lower motor neuron loss and muscle atrophy. Although it is accepted that…”
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Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice by Bricceno, Katherine V, Sampognaro, Paul J, Van Meerbeke, James P, Sumner, Charlotte J, Fischbeck, Kenneth H, Burnett, Barrington G

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (SMN1) gene and deficient…”
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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 by Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael A., Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques Jr, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.

“…ABSTRACT We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome…”
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Effects of SMN Deficiency on Muscle Development and Maintenance in Spinal Muscular Atrophy by Bricceno, Katherine V

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (SMN1 ) gene, resulting in…”
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