The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
Glanzman, A.M, Mazzone, E, Main, M, Pelliccioni, M, Wood, J, Swoboda, K.J, Scott, C, Pane, M, Messina, S, Bertini, E, Mercuri, E, Finkel, R.S
Published in Neuromuscular disorders : NMD (01.03.2010)
Published in Neuromuscular disorders : NMD (01.03.2010)
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Characterization of pulmonary function in Duchenne Muscular Dystrophy
Mayer, O.H., Finkel, R.S., Rummey, C., Benton, M.J., Glanzman, A.M., Flickinger, J., Lindström, B.-M., Meier, T.
Published in Pediatric pulmonology (01.05.2015)
Published in Pediatric pulmonology (01.05.2015)
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
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
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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T.P.2
Gissy, J.J, Johnson, T, Fox, D.J, Kumar, A, Ciafaloni, E, Kim, S, Yang, M, van Essen, A.J, Finkel, R.S
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P915: Longitudinal motor unit number estimation in a spinal muscular atrophy cohort
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
Published in Clinical neurophysiology (01.06.2014)
Published in Clinical neurophysiology (01.06.2014)
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G.O.17
Finkel, R.S, Day, J, Chiriboga, C, Vasjar, J, Cook, D, Watson, K, Paulose, S, McMillian, L, Cruz, R, Montes, J, Vivo, D.C. De, Yamashita, M, McGuire, D, Alexander, K, Norris, D, Bennett, C.F, Bishop, K
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.239
Medne, L, Bönnemann, C, Scherer, S, Finkel, R.S, Ortiz-Gonzalez, X, Glanzman, A, Estilow, T, Moll, A, Leshner, R, Wang, Y, Winder, T, Yum, S
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P.13.8 MRI measures of bone in Duchenne muscular dystrophy
Finanger, E.L, Pollaro, J, Russman, B, Lott, D.J, Bryne, B.J, Finkel, R.S, Tennekoon, G.I, Forbes, S.C, Walter, G.A, Vanenborne, K, Rooney, W.D
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.13.5 Magnetic resonance imaging and spectroscopy detect changes with age, corticosteroid treatment, and functional progression in DMD
Willcocks, R.J, Forbes, S.C, Finanger, E.L, Russman, B.S, Lott, D.J, Senesac, C.R, Triplett, W.T, Arpan, I, Daniels, M.J, Byrne, B.J, Finkel, R.S, Tennekoon, G.I, Rooney, W.D, Walter, G.A, Sweeney, H.L, Vandenborne, K
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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O15 Emerging results from the Imaging DMD study
Sweeney, H.L, Willcocks, R.J, Forbes, S.C, Rooney, W.D, Arpan, I, Triplett, W.T, Daniels, M.J, Lott, D.J, Senesac, C, Finkel, R.S, Byrne, B.J, Finanger, E.L, RussmanBS, B.S, Wang, D.J, Tennekoon, G.I, Walter, G.A, Vandenborne, K
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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P4.37 Characterization of pulmonary function in patients with Duchenne muscular dystrophy
Finkel, R.S, Rummey, C, Mayer, O.H, Benton, M.J, Glanzman, A.M, Flickinger, J, Leinonen, M, Meier, T
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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G.P.13.04 In-frame deletion of the entire dystrophin rod domain prevents compensation by utrophin and causes an unusually severe muscular dystrophy
Schessl, J, Yang, M.L, Heydemann, P.T, Sufit, R.L, Medne, L, Attia, A, Finkel, R.S, Bönnemann, C.G
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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T.P.1.08 Validation of the Expanded Hammersmith Functional Motor Scale in SMA types II and III
Glanzman, A.M, O’Hagen, J.M, McDermott, M.P, Martens, W.F, Ryan, P.A, Flickinger, J.F, Quigley, J, Riley, S, Montes, J, Chung, W.K, Deng, L, Darras, B.T, De Vivo, D.C, Kaufmann, P, Finkel, R.S
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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The restore registry: A resource for measuring and improving spinal muscular atrophy outcomes
Servais, L., Day, J.W., De Vivo, D.C., Kirschner, J., Mercuri, E., Muntoni, F., Shieh, P.B., Tizzano, E., Droege, M., Dabbous, O., Khan, F., Anderson, F.A., Finkel, R.S.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA)
Sumner, C.J., Darras, B.T., Muntoni, F., Crawford, T.O., Finkel, R.S., Mercuri, E., De Vivo, D.C., Oskoui, M., Tizzano, E.F., Ryan, M.M., Liu, Y., Petrillo, M., Stebbins, C., Koenig, E., Fradette, S., Farwell, W.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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