Search Results - "Kang, P.B."

G.P.160 by Mitsuhashi, S, Mitsuhashi, H, Alexander, M.S, Sugimoto, H, Kang, P.B

“…MEGF10 is a single transmembrane protein that is expressed in satellite cells of skeletal muscle, with 17 EGF-like domains in the extracellular region and 13…”
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P915: Longitudinal motor unit number estimation in a spinal muscular atrophy cohort by Kaufmann, P, Kang, P.B, Gooch, C.L, McDermott, M.P, Darras, B.T, Finkel, R.S, Yang, M.L, Sproule, D.M, Chung, W.K, De Vivo, D.C, M.S.G. Pediatric Neuromuscular Clinical Research Network

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G.P.167 by Connolly, A.M, Malkus, E.C, Schierbecker, J.R, Siener, C.A, Anand, P, Mendell, J.R, Flanigan, K.M, Golumbek, P.T, Zaidman, C.M, McDonald, C.M, Henricson, E, Johnson, L, Nicorici, A, Karachunski, P.I, Day, J.W, Kelecic, J.M, Lowes, L.P, Alfano, L.N, Darras, B.T, Kang, P.B, Florence, J.M

“…Few clinical trials involve non-ambulatory boys and men with Duchenne muscular dystrophy. We previously tested clinical outcomes in 91 subjects and found…”
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G.P.271 by Marttila, M, Lehtokari, V.L, Marston, S.B, Nyman, T.A, Barnerias, C, Beggs, A.H, Bertin, E, Ceyhan-Birsoy, Ö, Cintas, P, Gerard, M, Gilbert-Dussardier, B, Hogue, J.S, Longman, C, Eymard, B, Frydman, M, Kang, P.B, Klinge, L, Kolski, H, Lochmüller, H, Magy, L, Manel, V, Mayer, M, North, K.N, Peudenier-Robert, S, Pihko, H, Probst, F.J, Reisin, R, Stewart, W, Taratuto, A.L, de Visser, M, Wilichowski, E, Winer, J, Nowak, K, Lain, N.G, Winder, T.L, Monnier, N, Clarke, N.F, Pelin, K, Grönholm, M, Wallgren-Pettersson, C

“…Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy (NM), cap myopathy, core-rod myopathy, congenital fibre-type…”
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P.7.16 One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infant and Toddler Development by Connolly, A.M, Florence, J.M, Cradock, M.M, Malkus, E.C, Schierbecker, J.R, Siener, C.A, Wulf, C.O, Anand, P, Golumbek, P.T, Zaidman, C.M, Lowes, L.P, Alfano, L.N, Viollet-Callendret, L, Flanigan, K.M, Mendell, J.R, McDonald, C.M, Goude, E, Johnson, L, Nicorici, A, Karachunski, P.I, Day, J.W, Dalton, J.C, Farber, J.M, Buser, K.K, Darras, B.T, Kang, P.B, Riley, S.O, Shriber, E, Parad, R, Bushby, K, Eagle, M, DMD, M.D.A

“…Clinical trials currently underway in Duchenne muscular dystrophy (DMD) almost always exclude infants and young boys because traditional outcome measures rely…”
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P1.16 Novel mutations and loci are associated with limb girdle muscular dystrophy type 2 by Boyden, S.E, Salih, M.A.M, Estrella, E.A, White, A.J, Duncan, A.R, Burgess, S.L, Seidahmed, M.Z, Bennett, R.R, Kunkel, L.M, Kang, P.B

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G.P.160: Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy by Mitsuhashi, S., Mitsuhashi, H., Alexander, M.S., Sugimoto, H., Kang, P.B.

“…MEGF10 is a single transmembrane protein that is expressed in satellite cells of skeletal muscle, with 17 EGF-like domains in the extracellular region and 13…”
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Disorders of Voluntary Muscle by Kang, P.B

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G.P.167: Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA–DMD Network by Connolly, A.M., Malkus, E.C., Schierbecker, J.R., Siener, C.A., Anand, P., Mendell, J.R., Flanigan, K.M., Golumbek, P.T., Zaidman, C.M., McDonald, C.M., Henricson, E., Johnson, L., Nicorici, A., Karachunski, P.I., Day, J.W., Kelecic, J.M., Lowes, L.P., Alfano, L.N., Darras, B.T., Kang, P.B., Florence, J.M.

“…Few clinical trials involve non-ambulatory boys and men with Duchenne muscular dystrophy. We previously tested clinical outcomes in 91 subjects and found…”
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G.P.271: Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies by Marttila, M., Lehtokari, V.L., Marston, S.B., Nyman, T.A., Barnerias, C., Beggs, A.H., Bertin, E., Ceyhan-Birsoy, Ö., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J.S., Longman, C., Eymard, B., Frydman, M., Kang, P.B., Klinge, L., Kolski, H., Lochmüller, H., Magy, L., Manel, V., Mayer, M., North, K.N., Peudenier-Robert, S., Pihko, H., Probst, F.J., Reisin, R., Stewart, W., Taratuto, A.L., de Visser, M., Wilichowski, E., Winer, J., Nowak, K., Lain, N.G., Winder, T.L., Monnier, N., Clarke, N.F., Pelin, K., Grönholm, M., Wallgren-Pettersson, C.

“…Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy (NM), cap myopathy, core-rod myopathy, congenital fibre-type…”
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Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease) by Kang, P.B., Krishnamoorthy, K.S., Jones, R.M., Shapiro, F.D., Darras, B.T.

“…Spinal muscular atrophy type III (SMA III, Kugelberg–Welander disease) typically presents with symmetric proximal weakness, areflexia, and hypotonia. We…”
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G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease) by Raju, G.P., Li, S.-C., Bali, D.S., Anderson, J., McAlmon, K.R., Kim, H.B., Jonas, M.M., Smoot, L.B., Chen, Y.-T., Urion, D.K., Darras, B.T., Lidov, H.G.W., Kang, P.B.

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Disorders of Voluntary Muscle: Edited by G. Karpati, D. Hilton-Jones, R.C. Griggs. Cambridge University Press, 40 West 20th Street, New York, NY 10011-4211, USA, 2001, 775 pp., US$220.00 by Kang, P.B

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