Childhood spinal muscular atrophy: controversies and challenges von Mercuri, Eugenio, Prof, Bertini, Enrico, MD, Iannaccone, Susan T, Prof

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Social Media and Clinical Trials in Pediatric Disease: Musings From the Bench von Nelson, Leslie, Iannaccone, Susan T.

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy von Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

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Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder von Kalvakuntla, Sanjana, Lee, MinJae, Chung, Wendy K, Demarest, Scott, Freed, Amber, Horning, Kyle J, Bichell, Terry Jo, Iannaccone, Susan T, Goodspeed, Kimberly

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New results for risdiplam in spinal muscular atrophy von Iannaccone, Susan T

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Medical management of muscle weakness in Duchenne muscular dystrophy von Rivera, Sarah R, Jhamb, Sumit K, Abdel-Hamid, Hoda Z, Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T, Iannaccone, Susan T, Konersman, Chamindra G, Kuntz, Nancy L, McDonald, Craig M, Parsons, Julie A, Tesi Rocha, Carolina, Zaidman, Craig M, Butterfield, Russell J, Connolly, Anne M, Mathews, Katherine D

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Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan von Han, Renzhi, Kanagawa, Motoi, Yoshida-Moriguchi, Takako, Rader, Erik P, Ng, Rainer A, Michele, Daniel E, Muirhead, David E, Kunz, Stefan, Moore, Steven A, Iannaccone, Susan T, Miyake, Katsuya, McNeil, Paul L, Mayer, Ulrike, Oldstone, Michael B.A, Faulkner, John A, Campbell, Kevin P

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American College of Chest Physicians Consensus Statement on the Respiratory and Related Management of Patients With Duchenne Muscular Dystrophy Undergoing Anesthesia or Sedation von Birnkrant, David J., Panitch, Howard B., Benditt, Joshua O., Boitano, Louis J., Carter, Edward R., Cwik, Valerie A., Finder, Jonathan D., Iannaccone, Susan T., Jacobson, Lawrence E., Kohn, Gary L., Motoyama, Etsuro K., Moxley, Richard T., Schroth, Mary K., Sharma, Girish D., Sussman, Michael D.

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Estimating health state utilities in Duchenne muscular dystrophy using the health utilities index and EQ-5D-5L von Audhya, Ivana F., Szabo, Shelagh M., Bever, Andrea, O’Sullivan, Fiona, Malone, Daniel C., Feeny, David, Neumann, Peter, Iannaccone, Susan T., Jayasinghe, P., Gooch, Katherine L.

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Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy von Chiriboga, Claudia A, Swoboda, Kathryn J, Darras, Basil T, Iannaccone, Susan T, Montes, Jacqueline, De Vivo, Darryl C, Norris, Daniel A, Bennett, C Frank, Bishop, Kathie M

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Functional Muscle Ischemia in Neuronal Nitric Oxide Synthase-Deficient Skeletal Muscle of Children with Duchenne Muscular Dystrophy von Sander, M, Chavoshan, B, Harris, S A, Iannaccone, S T, Stull, J T, Thomas, G D, Victor, R G

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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial von Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial von Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre,... von Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R

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Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies von Darras, Basil T, Chiriboga, Claudia A, Iannaccone, Susan T, Swoboda, Kathryn J, Montes, Jacqueline, Mignon, Laurence, Xia, Shuting, Bennett, C Frank, Bishop, Kathie M, Shefner, Jeremy M, Green, Allison M, Sun, Peng, Bhan, Ishir, Gheuens, Sarah, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C

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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics von Finkel, Richard S., Mercuri, Eugenio, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Qian, Ying, Sejersen, Thomas

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Nemaline myopathy: A clinical study of 143 cases von Ryan, Monique M., Schnell, Christina, Strickland, Corinne D., Shield, Lloyd K., Morgan, Graeme, Iannaccone, Susan T., Laing, Nigel G., Beggs, Alan H., North, Kathryn N.

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Natural history of infantile‐onset spinal muscular atrophy von Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Iannaccone, Susan T., Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, Kissel, John T.

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Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report von Iannaccone, Susan T., Cai, Chunyu, Rhem, Brittney, Batley, Kaitlin, Rajaram, Veena, Greenberg, Benjamin M., Dharia, Sachi, Zaidman, Craig M.

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The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy von Nelson, Leslie, Owens, Hollis, Hynan, Linda S., Iannaccone, Susan T., AmSMART Group

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