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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THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study von Mcdonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine M., Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart

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The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicente... von McDonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart W.

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Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool von Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena S, Montes, Jacqueline, de Sanctis, Roberto, Dunaway Young, Sally, Salazar, Rachel, Glanzman, Allan M, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T, De Vivo, Darryl, Finkel, Richard, Mercuri, Eugenio, Muntoni, Francesco

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Commentary on “Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect” von Gardner, Mallory, Musey, Nathalie, Glanzman, Allan M.

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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression von Montes, Jacqueline, McDermott, Michael P, Mirek, Elizabeth, Mazzone, Elena S, Main, Marion, Glanzman, Allan M, Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, De Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W, Tennekoon, Gihan, Finkel, Richard S, Darras, Basil T, Muntoni, Francesco, De Vivo, Darryl C, Mercuri, Eugenio

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Revised upper limb module for spinal muscular atrophy: Development of a new module von Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

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Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy von Montes, Jacqueline, Dunaway Young, Sally, Mazzone, Elena S., Pasternak, Amy, Glanzman, Allan M., Finkel, Richard S., Darras, Basil T., Muntoni, Francesco, Mercuri, Eugenio, De Vivo, Darryl C., Bishop, Kathie M., Schneider, Eugene, Bennett, C. Frank, Foster, Richard, Farwell, Wildon

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Developmental milestones in type I spinal muscular atrophy von De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S, Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C, Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M, Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Mercuri, Eugenio

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Revised upper limb module for spinal muscular atrophy: 12 month changes von Pera, Maria Carmela, Coratti, Giorgia, Mazzone, Elena S., Montes, Jacqueline, Scoto, Mariacristina, De Sanctis, Roberto, Main, Marion, Mayhew, Anna, Muni Lofra, Robert, Dunaway Young, Sally, Glanzman, Allan M., Duong, Tina, Pasternak, Amy, Ramsey, Danielle, Darras, Basil, Day, John W., Finkel, Richard S., De Vivo, Darryl C., Sormani, Maria Pia, Bovis, Francesca, Straub, Volker, Muntoni, Francesco, Pane, Marika, Mercuri, Eugenio

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Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis von Sadjadi, Reza, Kelly, Kristina, Glanzman, Allan M., Montes, Jacqueline, Linsenmayer, Matthew, Tellez, Marco, Bartlett, Amy, Heintzman, Sarah, Kolb, Stephen J., Arnold, W. David, El‐Sheikh, Bakri

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Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials von Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S, Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M, Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T, Bertini, Enrico, Muntoni, Francesco, De Vivo, Darryl C

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Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen von Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

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Age and baseline values predict 12 and 24-month functional changes in type 2 SMA von Coratti, Giorgia, Pera, Maria C, Lucibello, Simona, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Glanzman, Allan M, Young, Sally Dunaway, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Goemans, Nathalie, Osorio, Andres Nascimiento, Pedemonte, Marina, Sansone, Valeria, Bertini, Enrico, De Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

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Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome von Gavazzi, Francesco, Vaia, Ylenia, Woidill, Sarah, Formanowski, Brielle, Peixoto de Barcelos, Isabella, Sevagamoorthy, Anjana, Modesti, Nicholson B, Charlton, Lauren, Cusack, Stacy V, Vincent, Ariel, D'Aiello, Russell, Jawad, Abbas, Galli, Jessica, Varesio, Costanza, Fazzi, Elisa, Orcesi, Simona, Glanzman, Allan M, Lorch, Scott, DeMauro, Sara B, Guez-Barber, Danielle, Waldman, Amy T, Vanderver, Adeline, Adang, Laura A

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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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Clinical Variability in Spinal Muscular Atrophy Type III von Coratti, Giorgia, Messina, Sonia, Lucibello, Simona, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Bovis, Francesca, Exposito Escudero, Jessica, Mazzone, Elena Stacy, Mayhew, Anna, Glanzman, Allan M., Young, Sally Dunaway, Salazar, Rachel, Duong, Tina, Muni Lofra, Robert, De Sanctis, Roberto, Carnicella, Sara, Milev, Evelin, Civitello, Matthew, Pane, Marika, Scoto, Mariacristina, Bettolo, Chiara Marini, Antonaci, Laura, Frongia, Annalia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, Van Den Hauwe, Marleen, Albamonte, Emilio, Goemans, Nathalie, Darras, Basil T., Bertini, Enrico, Sansone, Valeria, Day, John, Nascimento Osorio, Andres, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio

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Different trajectories in upper limb and gross motor function in spinal muscular atrophy von Coratti, Giorgia, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Scoto, Mariacristina, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M., Duong, Tina, De Sanctis, Roberto, Mazzone, Elena Stacy, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Pane, Marika, Antonaci, Laura, Frongia, Anna Lia, Sframeli, Maria, Vita, Gian Luca, DʼAmico, Adele, Mizzoni, Irene, Albamonte, Emilio, Darras, Basil T., Bertini, Enrico, Sansone, Valeria A., Bovis, Francesca, Day, John, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio

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Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome von Cusack, Stacy V., Gavazzi, Francesco, de Barcelos, Isabella Peixoto, Modesti, Nicholson B., Woidill, Sarah, Formanowski, Brielle, DeMauro, Sara B., Lorch, Scott, Vincent, Ariel, Jawad, Abbas F., Estilow, Timothy, Glanzman, Allan M., Vanderver, Adeline, Adang, Laura A.

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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase von Lopes Abath Neto, Osorio, Medne, Livija, Donkervoort, Sandra, Rodríguez-García, Maria Elena, Bolduc, Véronique, Hu, Ying, Guadagnin, Eleonora, Foley, A Reghan, Brandsema, John F, Glanzman, Allan M, Tennekoon, Gihan I, Santi, Mariarita, Berger, Justin H, Megeney, Lynn A, Komaki, Hirofumi, Inoue, Michio, Cotrina-Vinagre, Francisco Javier, Hernández-Lain, Aurelio, Martin-Hernández, Elena, Williams, Linford, Borell, Sabine, Schorling, David, Lin, Kimberly, Kolokotronis, Konstantinos, Lichter-Konecki, Uta, Kirschner, Janbernd, Nishino, Ichizo, Banwell, Brenda, Martínez-Azorín, Francisco, Burgon, Patrick G, Bönnemann, Carsten G

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