Search Results - "Tennekoon, G"

Pediatric optic neuritis : Brain MRI abnormalities and risk of multiple sclerosis by BONHOMME, G. R, WALDMAN, A. T, BALCER, L. J, DANIELS, A. B, TENNEKOON, G. I, FORMAN, S, GALETTA, S. L, LIU, G. T

“…Optic neuritis is often the initial presentation of multiple sclerosis (MS). As established by the Optic Neuritis Treatment Trial, an abnormal baseline brain…”
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CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD) by Finanger, E, Vandenborne, K, Finkel, R, Sweeney, H, Tennekoon, G, Yum, S, Mancini, M, Danis, J, Bista, P, Nichols, A, Donovan, J

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Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy? by Dunaway Young, S, Montes, J, Salazar, R, Glanzman, A, Pasternak, A, Quigley, J, Ciurylo, E, Riley, S, Martens, W, Gee, R, Duong, T, Civitello, M, Chiriboga, C, Tennekoon, G, Day, J, Finkel, R, Darras, B, De Vivo, D

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance by Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G

“…Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two…”
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G.P.99 by Estilow, T, Glanzman, A, Flickinger, J, Powers, K.M, Moll, A, Medne, L, Tennekoon, G, Yum, S.W

“…Non-ambulatory patients with Duchenne muscular dystrophy (DMD) have arm weakness limiting anti-gravity movement resulting in severe functional impairments. The…”
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Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity by Pierson, T M, Zimmerman, R A, Tennekoon, G I, Bönnemann, C G

“…A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including…”
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Genetic polymorphisms modify intramuscular fat infiltration in Duchenne muscular dystrophy by Barnard, A, Romero de Mello Sa, S, Willcocks, R, Senesac, C, Finkel, R, Forbes, S, Sweeney, H, Tennekoon, G, Triplett, W, Lott, D, Wang, D, Byrne, B, Hammers, D, Pham, J, Rooney, W, Finanger, E, Walter, G, Vandenborne, K, Russman, B

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P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy by Santi, M, Medne, L, Bharucha-Goebel, D, Bonnemann, C, Dastgir, J, Zukosky, K, Shieh, P, Winder, T, Tennekoon, G, Finkel, R, Dowling, J, Monnier, N

“…RYR1 associated myopathy classically manifests as central core disease with a static to slowly progressive course beginning with congenital hypotonia. Recently…”
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P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness by Perkins, K.Z, Meilleur, K, Medne, L, Devoto, M, Tennekoon, G, Yum, S, Yang, M, Finkel, R, Johnson, J, Gibbs, J.R, Ferguson, T, Zou, Y, Traynor, B, Bonnemann, C

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Neuregulin Signaling through a PI3K/Akt/Bad Pathway in Schwann Cell Survival by Li, Yiwen, Tennekoon, Gihan I., Birnbaum, Morris, Marchionni, Mark A., Rutkowski, J.Lynn

“…β-Neuregulin (βNRG) is a potent Schwann cell survival factor that binds to and activates a heterodimeric ErbB2/ErbB3 receptor complex. We found that NRG…”
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Schwann cell-conditioned medium promotes neuroblastoma survival and differentiation by KWIATKOWSKI, J. L, RUTKOWSKI, J. L, YAMASHIRO, D. J, TENNEKOON, G. I, BRODEUR, G. M

“…Neuroblastomas are histopathologically heterogeneous, ranging from immature malignant tumors to benign ganglioneuromas. The amount of Schwann cell stroma…”
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Spatial Segregation of mRNA Encoding Myelin-Specific Proteins by Trapp, B. D., Moench, T., Pulley, M., Barbosa, E., Tennekoon, G., Griffin, J.

“…The cellular and subcellular distributions of mRNAs encoding three myelin-specific proteins--myelin basic protein (MBP), proteolipid protein (PLP), and Po…”
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Nerve growth factor increases choline acetyltransferase activity in developing basal forebrain neurons by Mobley, W C, Rutkowski, J L, Tennekoon, G I, Gemski, J, Buchanan, K, Johnston, M V

“…Nerve growth factor (NGF) is a neuronotrophic protein. Its effects on developing peripheral sensory and sympathetic neurons have been extensively…”
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Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation by Gutmann, D H, Tennekoon, G I, Cole, J L, Collins, F S, Rutkowski, J L

“…Neurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a approximately 250 kDa protein expressed predominantly in cortical neurons and…”
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Selective culture of mitotically active human Schwann cells from adult sural nerves by Rutkowski, J L, Tennekoon, G I, McGillicuddy, J E

“…We devised a simple method to isolate mitotically active human Schwann cells from sural nerve biopsy specimens and expand the population in culture. Nerve…”
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Neurofibromatosis type 1 I. General overview by Lakkis, Maha M., Tennekoon, Gihan I.

“…Neurofibromatosis type 1 (NF1), or von Recklinghausen disease is a genetic disease characterized by a variety of multiple clinical symptoms affecting primarily…”
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A Role for Pak Protein Kinases in Schwann Cell Transformation by Tang, Yi, Marwaha, Sunil, Rutkowski, J. Lynn, Tennekoon, Gihan I., Phillips, Peter C., Field, Jeffrey

“…Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by loss of the NF1 gene, is characterized clinically by neurofibromas and more…”
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The role of complex carbohydrates in adhesion of the myelin protein, P0 by Filbin, M T, Tennekoon, G I

“…The most abundant protein of peripheral nerve myelin, a glycoprotein termed P0, is believed to be involved in the compaction of the myelin sheath and is…”
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DMD – THERAPY: P.282 Edasalonexent treatment in young boys with Duchenne muscular dystrophy is associated with age-normative growth and normal adrenal function by Finanger, E., Finkel, R., Tennekoon, G., Vandenborne, K., Sweeney, L., Shieh, P., Yum, S., Mancini, M., MacDougall, J., Donovan, J.

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DMD – THERAPY by Finanger, E., Finkel, R., Tennekoon, G., Vandenborne, K., Sweeney, L., Shieh, P., Yum, S., Mancini, M., MacDougall, J., Donovan, J.

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