Search Results - "Clemens, P.R."

G.P.13 by Mah, J.K, Chen, Y.W, Duong, T, Cnaan, A, Sund, Z, Morgenroth, L.P, McDonald, C, Tulinius, M, Sparks, S, Webster, R, Connolly, A, Karachunski, P, Clemens, P.R

“…Infantile FSHD is uncommon. We aim to describe the clinical features and secondary conditions in early onset FSHD. This study was conducted at participating…”
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M.P.1.04 Comparison of disease-causing mutations in Duchenne muscular dystrophy from the Cooperative International Neuromuscular Research Group with two large DMD mutation databases by Hache, L.P, Feingold, E, Escolar, D, McDonald, C, Clemens, P.R

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96. Placebo-controlled study of alglucosidase alfa in adults with pompe disease by Clemens, P.R, van der Ploeg, A, Corzo, D, Florence, J, Laforet, P, Lake, S, Pestronk, A, Rosenbloom, B, Skrinar, A, Wasserstein, M, Leshner, R, Escolar, D.M, Mayhew, J

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T.P.1.01 Use of the 6 min walk test as an endpoint in clinical trials for neuromuscular diseases by Florence, J.M, van der Ploeg, A, Clemens, P.R, Escolar, D.M, Laforet, P, Rosenbloom, B, Wasserstein, M, Skrinar, A, Pestronk, A, Mayhew, J.E

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T.O.4 Safety and efficacy results from a randomized, double-blind, placebo-controlled study of alglucosidase alfa for the treatment of Pompe disease in juveniles and adults by Laforet, P, Clemens, P.R, Corzo, D, Escolar, D, Florence, J, van der Ploeg, A, Lake, S, Mayhew, J, Pestronk, A, Rosenbloom, B, Skrinar, A, Wasserstein, M

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Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids by McDonald, Craig M., Gordish-Dressman, Heather, Henricson, Erik K., Duong, Tina, Joyce, Nanette C., Jhawar, Sanjay, Leinonen, Mika, Hsu, Fengming, Connolly, Anne M., Cnaan, Avital, Abresch, Richard T., Dubrovsky, A., Kornberg, A., Ryan, M., Webster, R., Biggar, W.D., McAdam, L.C., Mah, J.K., Kolski, H., Vishwanathan, V., Chidambaranathan, S., Nevo, Y., Gorni, K., Carlo, J., Tulinius, M., Lotze, T., Bertorini, T.E., Day, J.W., Karachunski, P., Clemens, P.R., Abdel-Hamid, H., Teasley, J., Kuntz, N., Driscoll, S., Bodensteiner, J.B., Connolly, A.M., Pestronk, A., Abresch, R.T., Henricson, E.K., Joyce, N.C., McDonald, C.M., Cnaan, A., Morgenroth, L.P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T.

“…•Natural history changes in pulmonary function tests across time in Duchenne muscular dystrophy.•Treatment with glucocorticoids (steroids) > 1 year was…”
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Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy by ESCOLAR, D. M, HACHE, L. P, PESTRONK, A, RYAN, M. M, MONASTERIO, E, DAY, J. W, ZIMMERMAN, A, ARRIETA, A, HENRICSON, E, MAYHEW, J, FLORENCE, J, HU, F, CLEMENS, P. R, CONNOLLY, A. M, CNAAN, A, MCDONALD, C. M, VISWANATHAN, V, KORNBERG, A. J, BERTORINI, T. E, NEVO, Y, LOTZE, T

“…To perform a double-blind, randomized study comparing efficacy and safety of daily and weekend prednisone in boys with Duchenne muscular dystrophy (DMD). A…”
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Inhibition of the IKK/NF-κB pathway by AAV gene transfer improves muscle regeneration in older mdx mice by Tang, Y, Reay, D P, Salay, M N, Mi, M Y, Clemens, P R, Guttridge, D C, Robbins, P D, Huard, J, Wang, B

“…The IκB kinase (IKKα, β and the regulatory subunit IKKγ) complex regulates nuclear factor of κB (NF-κB) transcriptional activity, which is upregulated in many…”
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G.P.13: Baseline characteristics of the CINRG infantile facioscapulohumeral muscular dystrophy (FSHD) cohort by Mah, J.K., Chen, Y.W., Duong, T., Cnaan, A., Sund, Z., Morgenroth, L.P., McDonald, C., Tulinius, M., Sparks, S., Webster, R., Connolly, A., Karachunski, P., Clemens, P.R.

“…Infantile FSHD is uncommon. We aim to describe the clinical features and secondary conditions in early onset FSHD. This study was conducted at participating…”
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Pentoxifylline as a rescue treatment for DMD: A randomized double-blind clinical trial by ESCOLAR, D. M, ZIMMERMAN, A, NEVO, Y, TESI-ROCHA, C, NAGARAJU, K, RAYAVARAPU, S, HACHE, L. P, MAYHEW, J. E, FLORENCE, J, HU, F, ARRIETA, A, HENRICSON, E, BERTORINI, T, LESHNER, R. T, MAH, J. K, CLEMENS, P. R, CONNOLLY, A. M, MESA, L, GORNI, K, KORNBERG, A, KOLSKI, H, KUNTZ, N

“…To determine whether pentoxifylline (PTX) slows the decline of muscle strength and function in ambulatory boys with Duchenne muscular dystrophy (DMD). This was…”
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Improvement of the mdx mouse dystrophic phenotype by systemic in utero AAV8 delivery of a minidystrophin gene by Koppanati, B M, Li, J, Reay, D P, Wang, B, Daood, M, Zheng, H, Xiao, X, Watchko, J F, Clemens, P R

“…Duchenne muscular dystrophy (DMD) is a devastating primary muscle disease with pathological changes in skeletal muscle that are ongoing at the time of birth…”
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Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy by Zimmerman, Angela, Clemens, Paula R., Tesi-Rocha, Carolina, Connolly, Anne, Iannaccone, Susan T., Kuntz, Nancy, Arrieta, Adrienne, Hache, Lauren, Henricson, Erik, Hu, Fengming, Mayhew, Jill, Escolar, Diana M.

“…Introduction: In this study we performed an open‐label, pilot study of an orally administered liquid formulation of immediate‐release pentoxifylline (PTX) on…”
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Effects of irradiating adult mdx mice before full-length dystrophin cDNA transfer on host anti-dystrophin immunity by Eghtesad, S, Zheng, H, Nakai, H, Epperly, M W, Clemens, P R

“…Duchenne muscular dystrophy is a fatal, genetic disorder in which dystrophin-deficient muscle progressively degenerates, for which dystrophin gene transfer…”
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Systemic delivery of AAV8 in utero results in gene expression in diaphragm and limb muscle: treatment implications for muscle disorders by Koppanati, B M, Li, J, Xiao, X, Clemens, P R

“…One of the major challenges in the treatment of primary muscle disorders, which often affect many muscle groups, is achieving efficient, widespread transgene…”
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T.P.1.01 Use of the 6min walk test as an endpoint in clinical trials for neuromuscular diseases by Florence, J.M., van der Ploeg, A., Clemens, P.R., Escolar, D.M., Laforet, P., Rosenbloom, B., Wasserstein, M., Skrinar, A., Pestronk, A., Mayhew, J.E.

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Pentanucleotide repeat length polymorphism at the human CD4 locus by EDWARDS, M. C, CLEMENS, P. R, TRISTAN, M, PIZZUTI, A, GIBBS, R. A

“…Images…”
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Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies by Chakraborty, R, Zhong, Y, de Andrade, M, Clemens, P R, Fenwick, R G, Caskey, C T

“…Four short tandem repeat loci, characterized by length polymorphisms of (CA)n repeats, have been detected within introns 44, 45, 49, and 50 of the human…”
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