International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update
Narayanaswami, Pushpa, Sanders, Donald B, Wolfe, Gil, Benatar, Michael, Cea, Gabriel, Evoli, Amelia, Gilhus, Nils Erik, Illa, Isabel, Kuntz, Nancy L, Massey, Janice, Melms, Arthur, Murai, Hiroyuki, Nicolle, Michael, Palace, Jacqueline, Richman, David, Verschuuren, Jan
Published in Neurology (19.01.2021)
Published in Neurology (19.01.2021)
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Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled, dose‐titration trial
Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.
Published in Muscle & nerve (01.09.2021)
Published in Muscle & nerve (01.09.2021)
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
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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, phase 3 trial
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
Published in Lancet neurology (01.04.2021)
Published in Lancet neurology (01.04.2021)
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Combination molecular therapies for type 1 spinal muscular atrophy
Harada, Yohei, Rao, Vamshi K., Arya, Kapil, Kuntz, Nancy L., DiDonato, Christine J., Napchan‐Pomerantz, Galia, Agarwal, Amit, Stefans, Vikki, Katsuno, Masahisa, Veerapandiyan, Aravindhan
Published in Muscle & nerve (01.10.2020)
Published in Muscle & nerve (01.10.2020)
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Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte
Shieh, Perry B, Bönnemann, Carsten G, Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J, Kuntz, Nancy L, Seferian, Andreea M
Published in Human gene therapy (01.08.2020)
Published in Human gene therapy (01.08.2020)
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Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study
Smith, Edward C., Conklin, Laurie S., Hoffman, Eric P., Clemens, Paula R., Mah, Jean K., Finkel, Richard S., Guglieri, Michela, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., Kerchner, Laurie, Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Jaros, Mark, Shale, Phil, Gordish-Dressman, Heather, Hagerty, Laura, Dang, Utkarsh J., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., McDonald, Craig M.
Published in PLoS medicine (01.09.2020)
Published in PLoS medicine (01.09.2020)
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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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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador
Published in Lancet neurology (01.12.2023)
Published in Lancet neurology (01.12.2023)
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Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study
Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, Raynaud, Stephanie, Lago, Tiffany R., Paradis, Angela D., Foster, Richard, Chin, Russell, Berger, Zdenek
Published in Muscle & nerve (01.08.2023)
Published in Muscle & nerve (01.08.2023)
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I. A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O’Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, McMillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun
Published in JAMA : the journal of the American Medical Association (19.04.2022)
Published in JAMA : the journal of the American Medical Association (19.04.2022)
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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study
Beggs, Alan H., Byrne, Barry J., De Chastonay, Sabine, Haselkorn, Tmirah, Hughes, Imelda, James, Emma S., Kuntz, Nancy L., Simon, Jennifer, Swanson, Lindsay C., Yang, Michele L., Yu, Zi‐Fan, Yum, Sabrina W., Prasad, Suyash
Published in Muscle & nerve (01.04.2018)
Published in Muscle & nerve (01.04.2018)
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Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function
Hoffman, Eric P, Schwartz, Benjamin D, Mengle-Gaw, Laurel J, Smith, Edward C, Castro, Diana, Mah, Jean K, McDonald, Craig M, Kuntz, Nancy L, Finkel, Richard S, Guglieri, Michela, Bushby, Katharine, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M, Webster, Richard, Smith, Andrea L, Morgenroth, Lauren P, Arrieta, Adrienne, Shimony, Maya, Siener, Catherine, Jaros, Mark, Shale, Phil, McCall, John M, Nagaraju, Kanneboyina, van den Anker, John, Conklin, Laurie S, Cnaan, Avital, Gordish-Dressman, Heather, Damsker, Jesse M, Clemens, Paula R
Published in Neurology (24.09.2019)
Published in Neurology (24.09.2019)
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Medical management of muscle weakness in Duchenne muscular dystrophy
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
Published in PloS one (19.10.2020)
Published in PloS one (19.10.2020)
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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J, Schwartz, Benjamin D, Harper, Amy D, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michelle L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard, McMillan, Hugh J, Kuntz, Nancy L, Rao, Vashmi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, de Groot, Imelda JM, Katsalouli, Marina, James, Meredith K, van den Anker, Johannes, Damsker, Jesse M, Ahmet, Alexandra, Ward, Leanne M, Jaros, Mark, Shale, Phil, Dang, Utkarsh J, Hoffman, Eric P
Published in Archives of neurology (Chicago) (01.10.2022)
Published in Archives of neurology (Chicago) (01.10.2022)
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Muscle specific kinase autoimmune myasthenia gravis in children: A case series
Skjei, Karen L, Lennon, Vanda A, Kuntz, Nancy L
Published in Neuromuscular disorders : NMD (01.11.2013)
Published in Neuromuscular disorders : NMD (01.11.2013)
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Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model
MacCannell, Drew, Berger, Zdenek, Kirschner, Janbernd, Mercuri, Eugenio, Farrar, Michelle A., Iannaccone, Susan T., Kuntz, Nancy L., Finkel, Richard S., Valente, Marta, Muntoni, Francesco
Published in CNS drugs (01.02.2022)
Published in CNS drugs (01.02.2022)
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Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study
Goedeker, Natalie L, Rogers, Amanda, Fisher, Mark, Arya, Kapil, Brandsema, John F, Farah, Hiba, Farrar, Michelle A, Felker, Marcia V, Gibbons, Melissa, Hamid, Omer Abdul, Harmelink, Matthew, Herbert, Karen, Kichula, Elizabeth, King, Kiana, Lakhotia, Arpita, Lee, Bo Hoon, Kuntz, Nancy L, Parsons, Julie, Rehborg, Rebecca, Veerapaniyan, Aravindhan, Zaidman, Craig M
Published in Muscle & nerve (06.10.2024)
Published in Muscle & nerve (06.10.2024)
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