Fracture burden in children and adults with hypophosphatasia
Whyte, M, Greenberg, C.R, Kishnani, P, Mhanni, A, Mayhew, J, Case, L, Siener, C, Lim, V, Kreher, N, Skrinar, A
Published in Bone (New York, N.Y.) (01.05.2012)
Published in Bone (New York, N.Y.) (01.05.2012)
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P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence
Skrinar, A.M, Argov, Z, Caraco, Y, Kolodny, E, Lau, H, Pestronk, A, Shieh, P, Bronstein, F, Esposito, A, Feinsod-Meiri, Y, Florence, J, Fowler, E, Greenberg, M, Malkus, E, Rebibo, O, Siener, C, Mayhew, J.E
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
Mayhew, J.E, Skrinar, A.M, Bronstein, F, Esposito, A, Feinsod-Meiri, Y, Florence, J, Fowler, E, Greenberg, M, Malkus, E, Rebibo, O, Siener, C, Caraco, Y, Kolodny, E, Lau, H, Pestronk, A, Shieh, P, Argov, Z
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Finkel, Richard S, Mercuri, Eugenio, Darras, Basil T, Connolly, Anne M, Kuntz, Nancy L, Kirschner, Janbernd, Chiriboga, Claudia A, Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M, Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C
Published in The New England journal of medicine (02.11.2017)
Published in The New England journal of medicine (02.11.2017)
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Ataluren treatment of patients with nonsense mutation dystrophinopathy
Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., O'donnell, Michael W., Peltz, Stuart W., Mcdonald, Craig M.
Published in Muscle & nerve (01.10.2014)
Published in Muscle & nerve (01.10.2014)
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AUTOIMMUNE MYOPATHIES: P.301 Optimizing hand-function patient outcome measures for inclusion body myositis
Lin, A., Siener, C., Faino, A., Seiffert, M., Weihl, C., Wang, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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AUTOIMMUNE MYOPATHIES
Lin, A., Siener, C., Faino, A., Seiffert, M., Weihl, C., Wang, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Journal Article
P.162 Clinical outcome study of dysferlinopathy: Performance of upper limb entry item to predict forced vital capacity in dysferlinopathy (LGMDR2)
James, M., Dressman, H. Gordish, Hilsden, H., Rufibach, L., Human, A., Duong, T., Maron, E., DeWolf, B., Rose, K., Siener, C., Thiele, S., Práxedes, N. Sánchez-Aguilera, Canal, A., Holsten, S., Sakamoto, C., Pedrosa-Hernández, I., Bello, L., Alfano, L., Lowes, L. Pax, Straub, V., Mayhew, A.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Physical frailty and body composition in obese elderly men and women
Villareal, D.T, Banks, M, Siener, C, Sinacore, D.R, Klein, S
Published in Obesity (Silver Spring, Md.) (01.06.2004)
Published in Obesity (Silver Spring, Md.) (01.06.2004)
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LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.9A comparison of the utility between three muscle strength assessment methods in dysferlinopathy
Miller, N., Lowes, L., James, M., Alfano, L., Mayhew, A., Maron, E., Gee, R., Harman, M., Duong, T., Vandervelde, B., Siener, C., Thiele, S., Mendez, B., Canal, A., Sakamoto, C., Holsten, S., Pedrosa Belmonte, I., Semplicini, C., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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LIMB-GIRDLE MUSCULAR DYSTROPHY I
Miller, N., Lowes, L., James, M., Alfano, L., Mayhew, A., Maron, E., Gee, R., Harman, M., Duong, T., Vandervelde, B., Siener, C., Thiele, S., Mendez, B., Canal, A., Sakamoto, C., Holsten, S., Pedrosa Belmonte, I., Semplicini, C., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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P.338Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function
Clemens, P., Mengle-Gaw, L., Smith, E., Castro, D., Mah, J., McDonald, C., Kuntz, N., Finkel, R., Guglieri, M., Tulinius, M., Nevo, Y., Ryan, M., Webster, R., Morgenroth, L., Siener, C., Shale, P., Nagaraju, K., Gordish-Dressman, H., Damsker, J., Hoffman, E.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.8Clinical outcome study for dysferlinopathy: three years of natural history data for clinical trial readiness
James, M., Mayhew, A., Muni Lofra, R., Jacobs, M., Canal, A., Duong, T., Gee, R., Harman, M., Holsten, S., Lowes, L., Maron, E., Mendez, B., Pedrosa Belmonte, I., Sakamoto, C., Semplicini, C., Siener, C., Thiele, S., Vandervelde, B., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Journal Article
LIMB-GIRDLE MUSCULAR DYSTROPHY I
James, M., Mayhew, A., Muni Lofra, R., Jacobs, M., Canal, A., Duong, T., Gee, R., Harman, M., Holsten, S., Lowes, L., Maron, E., Mendez, B., Pedrosa Belmonte, I., Sakamoto, C., Semplicini, C., Siener, C., Thiele, S., Vandervelde, B., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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SMA-MAP: a plasma protein panel for spinal muscular atrophy
Kobayashi, Dione T, Shi, Jing, Stephen, Laurie, Ballard, Karri L, Dewey, Ruth, Mapes, James, Chung, Brett, McCarthy, Kathleen, Swoboda, Kathryn J, Crawford, Thomas O, Li, Rebecca, Plasterer, Thomas, Joyce, Cynthia, Chung, Wendy K, Kaufmann, Petra, Darras, Basil T, Finkel, Richard S, Sproule, Douglas M, Martens, William B, McDermott, Michael P, De Vivo, Darryl C, Walker, Michael G, Chen, Karen S
Published in PloS one (02.04.2013)
Published in PloS one (02.04.2013)
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P.161 - North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy
James, M., Mayhew, A., Eagle, M., Muni Lofra, R., Maron, E., Gee, R., Harman, M., Duong, T., Vandevelde, B., Siener, C., Thiele, S., Mendez, J., Canal, A., Sakamoto, C., Holsten, S., Pedrosa-Hernández, I., Semplicini, C., Lowes, L., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy
James, M., Mayhew, A., Eagle, M., Muni Lofra, R., Maron, E., Gee, R., Harman, M., Duong, T., Vandevelde, B., Siener, C., Thiele, S., Mendez, J., Canal, A., Sakamoto, C., Holsten, S., Pedrosa-Hernández, I., Semplicini, C., Lowes, L., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Effect of weight loss and exercise on frailty in obese older adults
Villareal, Dennis T, Banks, Marian, Sinacore, David R, Siener, Catherine, Klein, Samuel
Published in Archives of internal medicine (1960) (24.04.2006)
Published in Archives of internal medicine (1960) (24.04.2006)
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