Observational study of spinal muscular atrophy type I and implications for clinical trials von Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, OʼHagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C

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High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 von Hilbert, James E, Barohn, Richard J, Clemens, Paula R, Luebbe, Elizabeth A, Martens, William B, McDermott, Michael P, Parkhill, Amy L, Tawil, Rabi, Thornton, Charles A, Moxley, 3rd, Richard T

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A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial von Crow, Rebecca A, Hart, Kimberly A, McDermott, Michael P, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michele, Brown, Mary W, Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y, Morandi, Lucia, Butterfield, Russell J, Horrocks, Iain, Roper, Helen, Flanigan, Kevin M, Kuntz, Nancy L, Mah, Jean K, Morrison, Leslie, Darras, Basil T, von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M, Vita, Giuseppe, Barohn, Richard J, Finkel, Richard S, Wicklund, Matthew, McMillan, Jr, Hugh J, Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W, Howard, James F, Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C, Bushby, Kate, Guglieri, Michela

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An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients von O’Hagen, Jessica M, Glanzman, Allan M, McDermott, Michael P, Ryan, Patricia A, Flickinger, Jean, Quigley, Janet, Riley, Susan, Sanborn, Erica, Irvine, Carrie, Martens, William B, Annis, Christine, Tawil, Rabi, Oskoui, Maryam, Darras, Basil T, Finkel, Richard S, De Vivo, Darryl C

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Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD) von Hamel, Johanna, Johnson, Nicholas, Tawil, Rabi, Martens, William B, Dilek, Nuran, McDermott, Michael P, Heatwole, Chad

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Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) von Glanzman, Allan M, McDermott, Michael P, Montes, Jacqueline, Martens, William B, Flickinger, Jean, Riley, Susan, Quigley, Janet, Dunaway, Sally, O'Hagen, Jessica, Deng, Liyong, Chung, Wendy K, Tawil, Rabi, Darras, Basil T, Yang, Michele, Sproule, Douglas, De Vivo, Darryl C, Kaufmann, Petra, Finkel, Richard S

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Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries von Higgs, Cecilia, Hilbert, James E., Wood, Libby, Martens, William B., Marini-Bettolo, Chiara, Nikolenko, Nikoletta, Alsaggaf, Rotana, Lochmüller, Hanns, Moxley, Richard T., Greene, Mark H., Wang, Youjin, Gadalla, Shahinaz M.

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Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy von Hoskens, Jasmine, Schiava, Marianela, Goemans, Nathalie, Feys, Hilde, McDermott, Michael P., Martens, William B., Mayhew, Anna, Griggs, Robert C., Klingels, Katrijn, Guglieri, Michela

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Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation: Post Hoc Analysis of the FOR-DMD Trial von Schiava, Marianela, McDermott, Michael P, Broomfield, Jonathan, Abrams, Keith R, Mayhew, Anna G, McDonald, Craig M, Martens, William B, Gregory, Stephanie J, Griggs, Robert C, Guglieri, Michela

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Prospective cohort study of spinal muscular atrophy types 2 and 3 von KAUFMANN, Petra, MCDERMOTT, Michael P, YANG, Michele L, TAWIL, Rabi, CHUNG, Wendy K, MARTENS, William B, MONTES, Jacqueline, BATTISTA, Vanessa, O'HAGEN, Jessica, DUNAWAY, Sally, FLICKINGER, Jean, QUIGLEY, Janet, DARRAS, Basil T, RILEY, Susan, GLANZMAN, Allan M, BENTON, Maryjane, RYAN, Patricia A, PUNYANITYA, Mark, MONTGOMERY, Megan J, MARRA, Jonathan, KOO, Benjamin, DE VIVO, Darryl C, FINKEL, Richard S, SPROULE, Douglas M, KANG, Peter B, OSKOUI, Maryam, CONSTANTINESCU, Andrei, GOOCH, Clifton L, REGHAN FOLEY, A

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Facioscapulohumeral muscular dystrophy functional composite outcome measure von Eichinger, Katy, Heatwole, Chad, Iyadurai, Stanley, King, Wendy, Baker, Lindsay, Heininger, Susanne, Bartlett, Amy, Dilek, Nuran, Martens, William B., Mcdermott, Michael, Kissel, John T., Tawil, Rabi, Statland, Jeffrey M.

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Milestones of progression in myotonic dystrophy type 1 and type 2 von Hamel, Johanna I., McDermott, Michael P., Hilbert, James E., Martens, William B., Luebbe, Elizabeth, Tawil, Rabi, Moxley, Richard T., Thornton, Charles A.

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Electrical impedance myography in facioscapulohumeral muscular dystrophy von Statland, Jeffrey M., Heatwole, Chad, Eichinger, Katy, Dilek, Nuran, Martens, William B., Tawil, Rabi

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Ankle bracing practices in ambulatory, corticosteroid‐naive boys with Duchenne muscular dystrophy von Kern, Victoria, Wicklund, Matthew, Haulman, Anne, McDermott, Michael P., Martens, William B., Griggs, Robert C., Kumar, Ashutosh

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Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1‐year follow‐up study von Mul, Karlien, Heatwole, Chad, Eichinger, Katy, Dilek, Nuran, Martens, William B., Van Engelen, Baziel G. M., Tawil, Rabi, Statland, Jeffrey M.

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Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III von Glanzman, Allan M., O’Hagen, Jessica M., McDermott, Michael P., Martens, William B., Flickinger, Jean, Riley, Susan, Quigley, Janet, Montes, Jacqueline, Dunaway, Sally, Deng, Liyong, Chung, Wendy K., Tawil, Rabi, Darras, Basil T., De Vivo, Darryl C., Kaufmann, Petra, Finkel, Richard S.

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Diagnostic odyssey of patients with myotonic dystrophy von Hilbert, James E., Ashizawa, Tetsuo, Day, John W., Luebbe, Elizabeth A., Martens, William B., McDermott, Michael P., Tawil, Rabi, Thornton, Charles A., Moxley, Richard T.

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Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1) von Moxley III, Richard T., Logigian, Eric L., Martens, William B., Annis, Chris L., Pandya, Shree, Moxley IV, Richard T., Barbieri, Cheryl A., Dilek, Nuran, Wiegner, Allen W., Thornton, Charles A.

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Nusinersen Treatment in Adults With Spinal Muscular Atrophy von Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, Day, John W.

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Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy von Wang, Leo H., Leung, Doris G., Wagner, Kathryn R., Lowry, Sarah J., McDermott, Michael P., Eichinger, Katy, Higgs, Kiley, Walker, Michaela, Lewis, Leann, Martens, William B., Mul, Karlien, Sansone, Valeria A., Shieh, Perry, Elsheikh, Bakri, LoRusso, Samantha, Butterfield, Russell J., Johnson, Nicholas, Preston, Matthew R., Messina, Carmelo, Carraro, Elena, Tawil, Rabi, Statland, Jeff

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