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933 results on '"Barohn, Richard J."'

204. 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

Author

Cluster B, Child Health, Infection & Immunity, Lundberg, Ingrid E, Tjärnlund, Anna, Bottai, Matteo, Werth, Victoria P, Pilkington, Clarissa, de Visser, Marianne, Alfredsson, Lars, Amato, Anthony A, Barohn, Richard J, Liang, Matthew H., Singh, Jasvinder A., Aggarwal, Rohit, Arnardottir, Snjolaug, Chinoy, Hector, Cooper, Robert G., Dankó, Katalin, Dimachkie, Mazen, Feldman, Brian M., Garcia-De La Torre, Ignacio, Gordon, Patrick, Hayashi, Taichi, Katz, James D, Kohsaka, Hitoshi, Lachenbruch, Peter A., Lang, Bianca A, Li, Yuhui, Oddis, Chester V., Olesinska, Marzena, Reed, Ann M., Rutkowska-Sak, Lidia, Sanner, Helga, Selva-O'Callaghan, Albert, Song, Yeong-Wook, Vencovsky, Jiri, Ytterberg, Steven R., Miller, Frederick W., Rider, Lisa G., International Myositis Classification Criteria Project Consortium, the Euromyositis Register, and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository (UK and Ireland), van Royen, Annet, Cluster B, Child Health, Infection & Immunity, Lundberg, Ingrid E, Tjärnlund, Anna, Bottai, Matteo, Werth, Victoria P, Pilkington, Clarissa, de Visser, Marianne, Alfredsson, Lars, Amato, Anthony A, Barohn, Richard J, Liang, Matthew H., Singh, Jasvinder A., Aggarwal, Rohit, Arnardottir, Snjolaug, Chinoy, Hector, Cooper, Robert G., Dankó, Katalin, Dimachkie, Mazen, Feldman, Brian M., Garcia-De La Torre, Ignacio, Gordon, Patrick, Hayashi, Taichi, Katz, James D, Kohsaka, Hitoshi, Lachenbruch, Peter A., Lang, Bianca A, Li, Yuhui, Oddis, Chester V., Olesinska, Marzena, Reed, Ann M., Rutkowska-Sak, Lidia, Sanner, Helga, Selva-O'Callaghan, Albert, Song, Yeong-Wook, Vencovsky, Jiri, Ytterberg, Steven R., Miller, Frederick W., Rider, Lisa G., International Myositis Classification Criteria Project Consortium, the Euromyositis Register, and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository (UK and Ireland), and van Royen, Annet

Published
2017

205. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN):a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Author

Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato, Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, and Mantegazza, Renato

Abstract

BACKGROUND: Complement is likely to have a role in refractory generalised myasthenia gravis, but no approved therapies specifically target this system. Results from a phase 2 study suggested that eculizumab, a terminal complement inhibitor, produced clinically meaningful improvements in patients with anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis. We further assessed the efficacy and safety of eculizumab in this patient population in a phase 3 trial.METHODS: We did a phase 3, randomised, double-blind, placebo-controlled, multicentre study (REGAIN) in 76 hospitals and specialised clinics in 17 countries across North America, Latin America, Europe, and Asia. Eligible patients were aged at least 18 years, with a Myasthenia Gravis-Activities of Daily Living (MG-ADL) score of 6 or more, Myasthenia Gravis Foundation of America (MGFA) class II-IV disease, vaccination against Neisseria meningitides, and previous treatment with at least two immunosuppressive therapies or one immunosuppressive therapy and chronic intravenous immunoglobulin or plasma exchange for 12 months without symptom control. Patients with a history of thymoma or thymic neoplasms, thymectomy within 12 months before screening, or use of intravenous immunoglobulin or plasma exchange within 4 weeks before randomisation, or rituximab within 6 months before screening, were excluded. We randomly assigned participants (1:1) to either intravenous eculizumab or intravenous matched placebo for 26 weeks. Dosing for eculizumab was 900 mg on day 1 and at weeks 1, 2, and 3; 1200 mg at week 4; and 1200 mg given every second week thereafter as maintenance dosing. Randomisation was done centrally with an interactive voice or web-response system with patients stratified to one of four groups based on MGFA disease classification. Where possible, patients were maintained on existing myasthenia gravis therapies and rescue medication was allowed at the study physician's discret

Published
2017

206. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Author

Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato, Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Han, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thoma, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Marku, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thoma, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirio, Bostantzopoulou, Sevasti, Vlaikidis, Nichola, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrio, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli Stampanoni-B, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jo, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, Hyejin, Kim, Byoung Joon, Cho, Eun Bin, Lee, Hyelim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, Juyoung, Lee, Jieun, Park, Sangae, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, Miri, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, Miju, Sazonov, Deni, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Deni, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlo, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Lui, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirba, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thoma, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nichola, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nichola, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, Mckinnon, Jonathan, Haar, Laura, Mckinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Denni, Mckenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Lui, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morri, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, Jame, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. Jame, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ro, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, Disanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, Mcclain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandro, Jia, Kelly, Bertorini, Tulio, Arnold, Thoma, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, Evoli, Amelia (ORCID:0000-0003-0282-8787), Howard, James F, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato, Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Han, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thoma, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Marku, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thoma, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirio, Bostantzopoulou, Sevasti, Vlaikidis, Nichola, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrio, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli Stampanoni-B, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jo, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, Hyejin, Kim, Byoung Joon, Cho, Eun Bin, Lee, Hyelim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, Juyoung, Lee, Jieun, Park, Sangae, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, Miri, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, Miju, Sazonov, Deni, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Deni, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlo, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Lui, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirba, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thoma, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nichola, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nichola, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, Mckinnon, Jonathan, Haar, Laura, Mckinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Denni, Mckenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Lui, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morri, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, Jame, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. Jame, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ro, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, Disanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, Mcclain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandro, Jia, Kelly, Bertorini, Tulio, Arnold, Thoma, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, and Evoli, Amelia (ORCID:0000-0003-0282-8787)

Abstract

Background Complement is likely to have a role in refractory generalised myasthenia gravis, but no approved therapies specifically target this system. Results from a phase 2 study suggested that eculizumab, a terminal complement inhibitor, produced clinically meaningful improvements in patients with anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis. We further assessed the efficacy and safety of eculizumab in this patient population in a phase 3 trial. Methods We did a phase 3, randomised, double-blind, placebo-controlled, multicentre study (REGAIN) in 76 hospitals and specialised clinics in 17 countries across North America, Latin America, Europe, and Asia. Eligible patients were aged at least 18 years, with a Myasthenia Gravis-Activities of Daily Living (MG-ADL) score of 6 or more, Myasthenia Gravis Foundation of America (MGFA) class II–IV disease, vaccination against Neisseria meningitides, and previous treatment with at least two immunosuppressive therapies or one immunosuppressive therapy and chronic intravenous immunoglobulin or plasma exchange for 12 months without symptom control. Patients with a history of thymoma or thymic neoplasms, thymectomy within 12 months before screening, or use of intravenous immunoglobulin or plasma exchange within 4 weeks before randomisation, or rituximab within 6 months before screening, were excluded. We randomly assigned participants (1:1) to either intravenous eculizumab or intravenous matched placebo for 26 weeks. Dosing for eculizumab was 900 mg on day 1 and at weeks 1, 2, and 3; 1200 mg at week 4; and 1200 mg given every second week thereafter as maintenance dosing. Randomisation was done centrally with an interactive voice or web-response system with patients stratified to one of four groups based on MGFA disease classification. Where possible, patients were maintained on existing myasthenia gravis therapies and rescue medication was allowed at the study physician's discretion. Pat

Published
2017

207. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Author

Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M, Brady, Stefen, Holton, Janice L, Pittman, Alan M, Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B, Needham, Merrilee, Liang, Christina, Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J, Dimachkie, Mazen M, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Singleton, Andrew B, Hanna, Michael G, Houlden, Henry, and Muscle Study Group and The International IBM Genetics Consortium

Abstract

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest. We identified 6 rare missense variants in the SQSTM1 and VCP in 7 sIBM patients (4.0%). Two variants, the SQSTM1 p.G194R and the VCP p.R159C, were significantly overrepresented in this sIBM cohort compared with controls. Five of these variants had been previously reported in patients with degenerative diseases. The messenger RNA levels of major histocompatibility complex genes were upregulated, this elevation being more pronounced in SQSTM1 patient group. We report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM. These data suggest that defects in neurodegenerative pathways may confer genetic susceptibility to sIBM and reinforce the mechanistic overlap in these neurodegenerative disorders.

Published
2016

208. A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis

Author

Wicklund, Matthew, Nations, Sharon, Pasnoor, Mamatha, Howard, James F., Pazcuzzi, Robert, Wang, Annabel K., Kissel, John T., Becker, Mara, Barohn, Richard J., Benatar, Michael, Rosenfeld, Jeffrey, Burns, Ted M., Mozaffar, Tahseen, Simpson, Ericka, Statland, Jeffrey M., Elsheikh, Bakri H., Saperstein, David, Herbelin, Laura, Pulley, Michael, David, William, Swenson, Andrea, Goyal, Namita, He, Jianghua, Bril, Vera, Dimachkie, Mazen M., Shaibani, J. Aziz, and Jackson, Carlayne

Abstract

OBJECTIVE: To determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG). METHODS: We performed a 12-month multicenter, randomized, double-blind, placebo-controlled trial of MTX 20 mg orally every week vs placebo in 50 acetylcholine receptor antibody-positive patients with MG between April 2009 and August 2014. The primary outcome measure was the prednisone area under the dose-time curve (AUDTC) from months 4 to 12. Secondary outcome measures included 12-month changes of the Quantitative Myasthenia Gravis Score, the Myasthenia Gravis Composite Score, Manual Muscle Testing, the Myasthenia Gravis Quality of Life, and the Myasthenia Gravis Activities of Daily Living. RESULTS: Fifty-eight patients were screened and 50 enrolled. MTX did not reduce the month 4-12 prednisone AUDTC when compared to placebo (difference MTX - placebo: -488.0 mg, 95% confidence interval -2,443.4 to 1,467.3, p = 0.26); however, the average daily prednisone dose decreased in both groups. MTX did not improve secondary measures of MG compared to placebo over 12 months. Eight participants withdrew during the course of the study (1 MTX, 7 placebo). There were no serious MTX-related adverse events. The most common adverse event was nonspecific pain (19%). CONCLUSIONS: We found no steroid-sparing benefit of MTX in MG over 12 months of treatment, despite being well-tolerated. This study demonstrates the challenges of conducting clinical trials in MG, including difficulties with recruitment, participants improving on prednisone alone, and the need for a better understanding of outcome measure variability for future clinical trials. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that for patients with generalized MG MTX does not significantly reduce the prednisone AUDTC over 12 months of therapy.

Published
2016
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209. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Author

Howard, James F, primary, Utsugisawa, Kimiaki, additional, Benatar, Michael, additional, Murai, Hiroyuki, additional, Barohn, Richard J, additional, Illa, Isabel, additional, Jacob, Saiju, additional, Vissing, John, additional, Burns, Ted M, additional, Kissel, John T, additional, Muppidi, Srikanth, additional, Nowak, Richard J, additional, O'Brien, Fanny, additional, Wang, Jing-Jing, additional, Mantegazza, Renato, additional, Mazia, Claudio Gabriel, additional, Wilken, Miguel, additional, Ortea, Carolina, additional, Saba, Juliet, additional, Rugiero, Marcelo, additional, Bettini, Mariela, additional, Vidal, Gonzalo, additional, Garcia, Alejandra Dalila, additional, Lamont, Phillipa, additional, Leong, Wai-Kuen, additional, Boterhoven, Heidi, additional, Fyfe, Beverly, additional, Roberts, Leslie, additional, Jasinarachchi, Mahi, additional, Willlems, Natasha, additional, Wanschitz, Julia, additional, Löscher, Wolfgang, additional, De Bleecker, Jan, additional, Van den Abeele, Guy, additional, de Koning, Kathy, additional, De Mey, Katrien, additional, Mercelis, Rudy, additional, Wagemaekers, Linda, additional, Mahieu, Delphine, additional, Van Damme, Philip, additional, Smetcoren, Charlotte, additional, Stevens, Olivier, additional, Verjans, Sarah, additional, D'Hondt, Ann, additional, Tilkin, Petra, additional, Alves de Siqueira Carvalho, Alzira, additional, Hasan, Rosa, additional, Dias Brockhausen, Igor, additional, Feder, David, additional, Ambrosio, Daniel, additional, Melo, Ana Paula, additional, Rocha, Rosana, additional, Rosa, Bruno, additional, Veiga, Thabata, additional, Augusto da Silva, Luiz, additional, Gonçalves Geraldo, Jordana, additional, da Penha Morita Ananias, Maria, additional, Nogueira Coelho, Erica, additional, Paiva, Gabriel, additional, Pozo, Marina, additional, Prando, Natalia, additional, Dada Martineli Torres, Debora, additional, Fernanda Butinhao, Cristiani, additional, Coelho, Erica, additional, Renata Cubas Volpe, Luciana, additional, Duran, Gustavo, additional, Gomes da Silva, Tamires Cristina, additional, Otavio Maia Gonçalves, Luiz, additional, Pazetto, Lucas Eduardo, additional, Souza Duca, Luciana, additional, Suriane Fialho, Tomás Augusto, additional, Gheller Friedrich, Maurício André, additional, Guerreiro, Alexandre, additional, Mohr, Henrique, additional, Pereira Martins, Maurer, additional, da Cruz Pacheco, Daiane, additional, Macagnan, Ana Paula, additional, de Cassia Santos, Aline, additional, Bulle Oliveira, Acary Souza, additional, Amaral de Andrade, Ana Carolina, additional, Annes, Marcelo, additional, Cavalcante Lino, Valeria, additional, Pinto, Wladimir, additional, Miranda, Carolina, additional, Carrara, Fernanda, additional, Souza, Iandra, additional, Genge, Angela, additional, Massie, Rami, additional, Campbell, Natasha, additional, Bril, Vera, additional, Katzberg, Hans, additional, Soltani, Mehran, additional, Ng, Eduardo, additional, Siddiqi, Zaeem, additional, Phan, Celile, additional, Blackmore, Derrick, additional, Vohanka, Stanislav, additional, Bednarik, Josef, additional, Chmelikova, Magda, additional, Cierny, Marek, additional, Toncrova, Stanislava, additional, Junkerova, Jana, additional, Kurkova, Barbora, additional, Reguliova, Katarina, additional, Zapletalova, Olga, additional, Pitha, Jiri, additional, Novakova, Iveta, additional, Tyblova, Michaela, additional, Wolfova, Marcela, additional, Jurajdova, Ivana, additional, Andersen, Henning, additional, Harbo, Thomas, additional, Vinge, Lotte, additional, Mogensen, Anita, additional, Højgaard, Joan, additional, Witting, Nanna, additional, Autzen, Anne Mette, additional, Pedersen, Jane, additional, Färkkilä, Markus, additional, Atula, Sari, additional, Nyrhinen, Anne, additional, Erälinna, Juha-Pekka, additional, Laaksonen, Mikko, additional, Oksaranta, Olli, additional, Eriksson, Jaana, additional, Harrison, Tuula, additional, Desnuelle, Claude, additional, Sacconi, Sabrina, additional, Soriani, Marie-Hélène, additional, Decressac, Sonia, additional, Moutarde, Julie, additional, Lahaut, Pauline, additional, Solé, Guilhem, additional, Le Masson, Gwendal, additional, Wielanek-Bachelet, Anne-Cécile, additional, Gaboreau, Morgane, additional, Moreau, Caroline, additional, Wilson, Amy, additional, Vial, Christophe, additional, Bouhour, Françoise, additional, Gervais-Bernard, Helene, additional, Merle, Hélène, additional, Hourquin, Caroline, additional, Lacour, Arnaud, additional, Outteryck, Olivier, additional, Vermersch, Patrick, additional, Zephir, Hélène, additional, Millois, Edouard, additional, Deneve, Michel, additional, Deruelle, Fabienne, additional, Schoser, Benedikt, additional, Wenninger, Stephan, additional, Stangel, Martin, additional, Alvermann, Sascha, additional, Gingele, Stefan, additional, Skripuletz, Thomas, additional, Suehs, Kurt-Wolfram, additional, Trebst, Corinna, additional, Fricke, Karin, additional, Papagiannopoulos, Sotirios, additional, Bostantzopoulou, Sevasti, additional, Vlaikidis, Nicholas, additional, Zampaki, Martha, additional, Papadopoulou, Nikoletta, additional, Mitsikostas, Dimos-Dimitrios, additional, Kasioti, Eleni, additional, Mitropoulou, Efstathia, additional, Charalambous, Despoina, additional, Rozsa, Csilla, additional, Horvath, Melinda, additional, Lovas, Gabor, additional, Matolcsi, Judit, additional, Szabo, Gyorgyi, additional, Szabadosne, Brigitta, additional, Vecsei, Laszlo, additional, Dezsi, Livia, additional, Varga, Edina, additional, Konyane, Monika, additional, Gross, Bella, additional, Azrilin, Olga, additional, Greenbereg, Nelly, additional, Bali Kuperman, Hila, additional, Antonini, Giovanni, additional, Garibaldi, Matteo, additional, Morino, Stefania, additional, Troili, Fernanda, additional, Di Pasquale, Antonella, additional, Filla, Alessandro, additional, Costabile, Teresa, additional, Marano, Enrico, additional, Sacca, Francesco, additional, Marsil, Angela, additional, Puorro, Giorgia, additional, Maestri Tassoni, Michelangelo, additional, De Rosa, Anna, additional, Bonanno, Silvia, additional, Antozzi, Carlo, additional, Maggi, Lorenzo, additional, Campanella, Angela, additional, Angelini, Corrado, additional, Cudia, Paola, additional, Pegoraro, Valentina, additional, Pinzan, Elena, additional, Bevilacqua, Francesca, additional, Orrico, Daniele, additional, Bonifati, Domenico Marco, additional, Evoli, Amelia, additional, Alboini, Paolo Emilio, additional, D'Amato, Valentina, additional, Iorio, Raffaele, additional, Inghilleri, Maurizio, additional, Fionda, Laura, additional, Frasca, Vittorio, additional, Giacomelli, Elena, additional, Gori, Maria, additional, Lopergolo, Diego, additional, Onesti, Emanuela, additional, Gabriele, Maria, additional, Patti, Francesco, additional, Salvatore Caramma, Andrea, additional, Messina, Silvia, additional, Reggio, Ester, additional, Caserta, Cinzia, additional, Uzawa, Akiyuki, additional, Kanai, Tetsuya, additional, Mori, Masahiro, additional, Kaneko, Yoko, additional, Kanzaki, Akiko, additional, Kobayashi, Eri, additional, Masaki, Katsuhisa, additional, Matsuse, Dai, additional, Matsushita, Takuya, additional, Uehara, Taira, additional, Shimpo, Misa, additional, Jingu, Maki, additional, Kikutake, Keiko, additional, Nakamura, Yumiko, additional, Sano, Yoshiko, additional, Nagane, Yuriko, additional, Kamegamori, Ikuko, additional, Fujii, Yuko, additional, Futono, Kazumi, additional, Tsuda, Tomoko, additional, Saito, Yuka, additional, Suzuki, Hidekazu, additional, Morikawa, Miyuki, additional, Samukawa, Makoto, additional, Kamakura, Sachiko, additional, Shiraishi, Hirokazu, additional, Mitazaki, Teiichiro, additional, Motomura, Masakatsu, additional, Mukaino, Akihiro, additional, Yoshimura, Shunsuke, additional, Asada, Shizuka, additional, Kobashikawa, Tomomi, additional, Koga, Megumi, additional, Maeda, Yasuko, additional, Takada, Kazumi, additional, Takada, Mihoko Takada, additional, Yamashita, Yumi, additional, Yoshida, Seiko, additional, Suzuki, Yasushi, additional, Akiyama, Tetsuya, additional, Narikawa, Koichi, additional, Tsukita, Kenichi, additional, Meguro, Fumie, additional, Fukuda, Yusuke, additional, Sato, Miwako, additional, Matsuo, Hidenori, additional, Fukudome, Takayasu, additional, Gondo, Yuichiro, additional, Maeda, Yasuhiro, additional, Nagaishi, Akiko, additional, Nakane, Shunya, additional, Okubo, Yoshinori, additional, Okumura, Meinoshin, additional, Funaka, Soichiro, additional, Kawamura, Tomohiro, additional, Makamori, Masayuki, additional, Takahashi, Masanori, additional, Hasuike, Tomoya, additional, Higuchi, Eriko, additional, Kobayashi, Hisako, additional, Osakada, Kaori, additional, Taichi, Namie, additional, Tsuda, Emiko, additional, Hayashi, Takashi, additional, Hisahara, Shin, additional, Imai, Tomihiro, additional, Kawamata, Jun, additional, Murahara, Takashi, additional, Saitoh, Masaki, additional, Shimohama, Shun, additional, Suzuki, Shuichiro, additional, Yamamoto, Daisuke, additional, Konno, Shingo, additional, Imamura, Tomomi, additional, Inoue, Masashi, additional, Murata, Mayumi, additional, Nakazora, Hiroshi, additional, Nakayama, Ritsu, additional, Ikeda, Yasuko, additional, Ogawa, Miki, additional, Shirane, Maoko, additional, Kanda, Takashi, additional, Kawai, Motoharu, additional, Koga, Michiaki, additional, Ogasawara, Junichi, additional, Omoto, Masatoshi, additional, Sano, Yasuteru, additional, Arima, Hideki, additional, Fukui, Sachie, additional, Shimose, Shigemi, additional, Shinozaki, Hirokazu, additional, Watanabe, Masanori, additional, Yoshikawa, Chieko, additional, van der Kooi, Anneke, additional, de Visser, Marianne, additional, Gibson, Tamar, additional, Maessen, Jos, additional, de Baets, Marc, additional, Faber, Catherine, additional, Keijzers, Maria Johanna, additional, Miesen, Monique, additional, Kostera-Pruszczyk, Anna, additional, Kaminska, Anna, additional, Kim, Byung-Jo, additional, Lee, Chang Nyoung, additional, Koo, Yong Seo, additional, Seok, Hung Youl, additional, Kang, Hoo Nam, additional, Ra, HyeJin, additional, Kim, Byoung Joon, additional, Cho, Eun Bin, additional, Lee, HyeLim, additional, Min, Ju-Hong, additional, Seok, Jinmyoung, additional, Koh, Da Yoon, additional, Kwon, JuYoung, additional, Lee, JiEun, additional, Park, SangAe, additional, Hong, Yoon-Ho, additional, Lim, Jae-Sung, additional, Kim, MiRi, additional, Kim, Seung Min, additional, Kim, Yool-hee, additional, Lee, Hyung Seok, additional, Shin, Ha Young, additional, Hwang, Eun Bi, additional, Shin, MiJu, additional, Sazonov, Denis, additional, Yarmoschuk, Asya, additional, Babenko, Larisa, additional, Malkova, Nadezhda, additional, Melnikova, Anna, additional, Korobko, Denis, additional, Kosykh, Evgeniya, additional, Pokhabov, Dmitry, additional, Nesterova, Yulia, additional, Abramov, Vladislav, additional, Balyazin, Victor, additional, Casasnovas Pons, Carlos, additional, Alberti Aguilo, Maria, additional, Homedes-Pedret, Christian, additional, Palacios, Natalia Julia, additional, Lazaro, Ana, additional, Diez Tejedor, Exuperio, additional, Fernandez-Fournier, Mireya, additional, Lopez Ruiz, Pedro, additional, Rodriguez de Rivera, Francisco Javier, additional, Salvado Figueras, Maria, additional, Gamez, Josep, additional, Salvado, Maria, additional, Cortes Vicente, Elena, additional, Diaz-Manera, Jordi, additional, Querol Gutierrez, Luis, additional, Rojas Garcia, Ricardo, additional, Vidal, Nuria, additional, Arribas-Ibar, Elisabet, additional, Piehl, Fredrik, additional, Hietala, Albert, additional, Bjarbo, Lena, additional, Lindberg, Christopher, additional, Jons, Daniel, additional, Andersson, Blanka, additional, Sengun, Ihsan, additional, Ozcelik, Pinar, additional, Tuga, Celal, additional, Ugur, Muzeyyen, additional, Boz, Cavit, additional, Altiparmak, Didem, additional, Gazioglu, Sibel, additional, Ozen Aydin, Cigdem, additional, Erdem-Ozdamar, Sevim, additional, Bekircan-Kurt, Can Ebru, additional, Yilmaz, Ezgi, additional, Acar, Nazire Pinar, additional, Caliskan, Yagmur, additional, Efendi, Husnu, additional, Aydinlik, Seda, additional, Cavus, Hakan, additional, Semiz, Cansu, additional, Tun, Ozlem, additional, Terzi, Murat, additional, Dogan, Baki, additional, Onar, Musa Kazim, additional, Sen, Sedat, additional, Cavdar, Tugce Kirbas, additional, Norwood, Fiona, additional, Dimitriou, Aikaterini, additional, Gollogly, Jakit, additional, Mahdi-Rogers, Mohamed, additional, Seddigh, Arshira, additional, Maier, Gal, additional, Sohail, Faisal, additional, Sathasivam, Sivakumar, additional, Arndt, Heike, additional, Davies, Debbie, additional, Watling, Dave, additional, Rivner, Michael, additional, Hartmann, J. Edward, additional, Quarles, Brandy, additional, Smalley, Nicole, additional, Amato, Anthony, additional, Cochrane, Thomas, additional, Salajegheh, Mohammed, additional, Roe, Kristen, additional, Amato, Katherine, additional, Toska, Shirli, additional, Wolfe, Gil, additional, Silvestri, Nicholas, additional, Patrick, Kara, additional, Zakalik, Karen, additional, Katz, Jonathan, additional, Miller, Robert, additional, Engel, Marguerite, additional, Bravver, Elena, additional, Brooks, Benjamin, additional, Plevka, Sarah, additional, Burdette, Maryanne, additional, Sanjak, Mohammad, additional, Kramer, Megan, additional, Nemeth, Joanne, additional, Schommer, Clara, additional, Juel, Vern, additional, Guptill, Jeffrey, additional, Hobson-Webb, Lisa, additional, Beck, Kate, additional, Carnes, Donna, additional, Loor, John, additional, Anderson, Amanda, additional, Lange, Dale, additional, Agopian, Eliz, additional, Goldstein, Jonathan, additional, Manning, Erin, additional, Kaplan, Lindsay, additional, Holzberg, Shara, additional, Kassebaum, Nicole, additional, Pascuzzi, Robert, additional, Bodkin, Cynthia, additional, Kincaid, John, additional, Snook, Riley, additional, Guinrich, Sandra, additional, Micheels, Angela, additional, Chaudhry, Vinay, additional, Corse, Andrea, additional, Mosmiller, Betsy, additional, Ho, Doreen, additional, Srinivasan, Jayashri, additional, Vytopil, Michael, additional, Ventura, Nicholas, additional, Scala, Stephanie, additional, Carter, Cynthia, additional, Donahue, Craig, additional, Herbert, Carol, additional, Weiner, Elaine, additional, McKinnon, Jonathan, additional, Haar, Laura, additional, McKinnon, Naya, additional, Alcon, Karan, additional, Daniels, Kevin, additional, Sattar, Nadia, additional, Jeffery, Dennis, additional, McKenna, Kaitlyn, additional, Guidon, Amanda, additional, David, William, additional, Dheel, Christina, additional, Levine-Weinberg, Mark, additional, Nigro, Catherine, additional, Simpson, Ericka, additional, Appel, Stanley H, additional, Lai, Eugene, additional, Lay, Jr, Luis, additional, Pleitez, Milvia, additional, Halton, Sharon, additional, Faigle, Casey, additional, Thompson, Lisa, additional, Sivak, Mark, additional, Shin, Susan, additional, Bratton, Joan, additional, Jacobs, Daniel, additional, Brown, Gavin, additional, Bandukwala, Ibrez, additional, Brown, Morris, additional, Kane, Jennifer, additional, Blount, Ira, additional, Freimer, Miriam, additional, Hoyle, J. Chad, additional, Agriesti, Julie, additional, Khoury, Julie, additional, Marburger, Tessa, additional, Kaur, Harpreet, additional, Dimitrova, Diana, additional, Mellion, Michelle, additional, Sachs, George, additional, Crabtree, Brigid, additional, Keo, Roseann, additional, Perez, Ele Kim, additional, Taber, Sandra, additional, Gilchrist, James, additional, Andoin, Angela, additional, Darnell, Taylor, additional, Goyal, Neelam, additional, Sakamuri, Sarada, additional, So, Yuen T, additional, Welsh, Lesly Welsh, additional, Bhavaraju-Sanka, Ratna, additional, Tobon Gonzalez, Alejandro, additional, Jones, Floyd, additional, Saklad, Amy, additional, Nations, Sharon, additional, Trivedi, Jaya, additional, Hopkins, Steve, additional, Kazamel, Mohamed, additional, Alsharabati, Mohammad, additional, Lu, Liang, additional, Mumfrey-Thomas, Sandi, additional, Woodall, Amy, additional, Richman, David, additional, Butters, Janelle, additional, Lindsay, Molly, additional, Mozaffar, Tahseen, additional, Cash, Tiyonnoh, additional, Goyal, Namita, additional, Roy, Gulmohor, additional, Mathew, Veena, additional, Maqsood, Fatima, additional, Minton, Brian, additional, Jones, H. James, additional, Rosenfeld, Jeffrey, additional, Garcia, Rebekah, additional, Garcia, Sonia, additional, Echevarria, Laura, additional, Pulley, Michael, additional, Aranke, Shachie, additional, Berger, Alan Ross, additional, Shah, Jaimin, additional, Shabbir, Yasmeen, additional, Smith, Lisa, additional, Varghese, Mary, additional, Gutmann, Laurie, additional, Gutmann, Ludwig, additional, Swenson, Andrea, additional, Olalde, Heena, additional, Hafer-Macko, Charlene, additional, Kwan, Justin, additional, Zilliox, Lindsay, additional, Callison, Karen, additional, DiSanzo, Beth, additional, Naunton, Kerry, additional, Bilsker, Martin, additional, Sharma, Khema, additional, Reyes, Eliana, additional, Cooley, Anne, additional, Michon, Sara-Claude, additional, Steele, Julie, additional, Karam, Chafic Karam, additional, Chopra, Manisha, additional, Bird, Shawn, additional, Kaufman, Jacob, additional, Gallatti, Nichole, additional, Vu, Tuan, additional, Katzin, Lara, additional, McClain, Terry, additional, Harvey, Brittany, additional, Hart, Adam, additional, Huynh, Kristin, additional, Beydoun, Said, additional, Chilingaryan, Amaiak, additional, Droker, Brian, additional, Lin, Frank, additional, Shah, Akshay, additional, Tran, Anh, additional, Akhter, Salma, additional, Malekniazi, Ali, additional, Tandan, Rup, additional, Hehir, Michael, additional, Waheed, Waqar, additional, Lucy, Shannon, additional, Weiss, Michael, additional, Distad, Jane, additional, Downing, Sharon, additional, Strom, Susan, additional, Lisak, Robert, additional, Bernitsas, Evanthia, additional, Khan, Omar, additional, Kumar Sriwastava, Shitiz, additional, Tselis, Alexandros, additional, Jia, Kelly, additional, Bertorini, Tulio, additional, Arnold, Thomas, additional, Henderson, Kendrick, additional, Pillai, Rekha, additional, Liu, Ye, additional, Wheeler, Lauren, additional, Hewlett, Jasmine, additional, Vanderhook, Mollie, additional, Dicapua, Daniel, additional, Keung, Benison, additional, Kumar, Aditya, additional, Patwa, Huned, additional, Robeson, Kimberly, additional, Nye, Joan, additional, and Vu, Hong, additional

Published
2017
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210. EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report

Author

Bottai, Matteo, primary, Tjärnlund, Anna, additional, Santoni, Giola, additional, Werth, Victoria P, additional, Pilkington, Clarissa, additional, de Visser, Marianne, additional, Alfredsson, Lars, additional, Amato, Anthony A, additional, Barohn, Richard J, additional, Liang, Matthew H, additional, Singh, Jasvinder A, additional, Aggarwal, Rohit, additional, Arnardottir, Snjolaug, additional, Chinoy, Hector, additional, Cooper, Robert G, additional, Danko, Katalin, additional, Dimachkie, Mazen M, additional, Feldman, Brian M, additional, García-De La Torre, Ignacio, additional, Gordon, Patrick, additional, Hayashi, Taichi, additional, Katz, James D, additional, Kohsaka, Hitoshi, additional, Lachenbruch, Peter A, additional, Lang, Bianca A, additional, Li, Yuhui, additional, Oddis, Chester V, additional, Olesinka, Marzena, additional, Reed, Ann M, additional, Rutkowska-Sak, Lidia, additional, Sanner, Helga, additional, Selva-O’Callaghan, Albert, additional, Wook Song, Yeong, additional, Vencovsky, Jiri, additional, Ytterberg, Steven R, additional, Miller, Frederick W, additional, Rider, Lisa G, additional, and Lundberg, Ingrid E, additional

Published
2017
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211. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, Craig M, primary, Campbell, Craig, additional, Torricelli, Ricardo Erazo, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Heydemann, Peter, additional, Kaminska, Anna, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Osorio, Andrés Nascimento, additional, Schara, Ulrike, additional, Sejersen, Thomas, additional, Shieh, Perry B, additional, Sweeney, H Lee, additional, Topaloglu, Haluk, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Voit, Thomas, additional, Wong, Brenda, additional, Elfring, Gary, additional, Kroger, Hans, additional, Luo, Xiaohui, additional, McIntosh, Joseph, additional, Ong, Tuyen, additional, Riebling, Peter, additional, Souza, Marcio, additional, Spiegel, Robert J, additional, Peltz, Stuart W, additional, Mercuri, Eugenio, additional, Alfano, Lindsay N, additional, Eagle, Michelle, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, Rose, Kristy J, additional, Abdel-Hamid, Hoda Z, additional, Apkon, Susan D, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bloetzer, Clemens, additional, de Vaud, Lausanne Canton, additional, Butterfield, Russell J, additional, Chabrol, Brigitte, additional, Chae, Jong-Hee, additional, Jongno-gu, Daehak-ro, additional, Comi, Giacomi Pietro, additional, Darras, Basil T, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Guglieri, Michela, additional, Hughes, Imelda, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Nevo, Yoram, additional, Parsons, Julie, additional, Péréon, Yann, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Renfroe, J Ben, additional, de Resende, Maria Bernadete Dutra, additional, Ryan, Monique, additional, Selby, Kathryn, additional, Tennekoon, Gihan, additional, and Vita, Giuseppe, additional

Published
2017
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212. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

Author

Guglieri, Michela, primary, Bushby, Kate, additional, McDermott, Michael P., additional, Hart, Kimberly A., additional, Tawil, Rabi, additional, Martens, William B., additional, Herr, Barbara E., additional, McColl, Elaine, additional, Wilkinson, Jennifer, additional, Kirschner, Janbernd, additional, King, Wendy M., additional, Eagle, Michele, additional, Brown, Mary W., additional, Willis, Tracey, additional, Hirtz, Deborah, additional, Shieh, Perry B., additional, Straub, Volker, additional, Childs, Anne-Marie, additional, Ciafaloni, Emma, additional, Butterfield, Russell J., additional, Horrocks, Iain, additional, Spinty, Stefan, additional, Flanigan, Kevin M., additional, Kuntz, Nancy L., additional, Baranello, Giovanni, additional, Roper, Helen, additional, Morrison, Leslie, additional, Mah, Jean K., additional, Manzur, Adnan Y., additional, McDonald, Craig M., additional, Schara, Ulrike, additional, von der Hagen, Maja, additional, Barohn, Richard J., additional, Campbell, Craig, additional, Darras, Basil T., additional, Finkel, Richard S., additional, Vita, Giuseppe, additional, Hughes, Imelda, additional, Mongini, Tiziana, additional, Pegoraro, Elena, additional, Wicklund, Matthew, additional, Wilichowski, Ekkehard, additional, Bryan Burnette, W., additional, Howard, James F., additional, McMillan, Hugh J., additional, Thangarajh, Mathula, additional, and Griggs, Robert C., additional

Published
2017
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213. Dysregulation of B Cell Repertoire Formation in Myasthenia Gravis Patients Revealed through Deep Sequencing

Author

Vander Heiden, Jason A., primary, Stathopoulos, Panos, additional, Zhou, Julian Q., additional, Chen, Luan, additional, Gilbert, Tamara J., additional, Bolen, Christopher R., additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Ciafaloni, Emma, additional, Broering, Teresa J., additional, Vigneault, Francois, additional, Nowak, Richard J., additional, Kleinstein, Steven H., additional, and O’Connor, Kevin C., additional

Published
2017
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214. Patterns of Weakness, Classification of Motor Neuron Disease & Clinical Diagnosis of Sporadic ALS

Author

Statland, Jeffrey M., Barohn, Richard J., McVey, April L., Katz, Jonathan, and Dimachkie, Mazen M.

Subjects
Diagnosis, Differential, Amyotrophic Lateral Sclerosis, Humans, History, 20th Century, Motor Neuron Disease, Severity of Illness Index, Article
Abstract

When approaching the patient with suspected motor neuron disease (MND) the pattern of weakness on exam helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing, in the absence of other abnormalities on neuroimaging or serological testing. MNDs exist on a spectrum: from a pure lower motor neuron; to mixed upper and lower motor neuron; to a pure upper motor neuron variant in addition to regional variants restricted to the arms, legs or bulbar region. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic (~85%), which is invariably fatal. The only FDA approved treatments for ALS are riluzole, which prolongs life by about 3 months, and dextromethorphan/quinidine which provides symptomatic relief for pseudobulbar affect (inappropriate bouts of laughter or crying). Here we describe a pattern approach to identifying motor neuron disease, and clinical features of sporadic ALS.

Published
2015

215. A Genome-Wide Association Study of Myasthenia Gravis

Author

Maestri, Michelangelo, Bartoccioni, Emanuela, Nalls, Michael A., Pasnoor, Mamatha, Sabatelli, Mario, McVey, April, Marangi, Giuseppe, Abramzon, Yevgeniya, Dimachkie, Mazen M., Kissel, John, Macek, Mark, Arepalli, Sampath, Pliner, Hannah A., Scholz, Sonja W., Chiò, Adriano, Scuderi, Flavia, Ricciardi, Roberta, Freimer, Miriam, Hernandez, Dena G., Gibbs, J. Raphael, Chaudhry, Vinay, Benatar, Michael, Errichiello, Edoardo, Provenzano, Carlo, Chong, Sean, Barohn, Richard J., Evoli, Amelia, Johnson, Janel O., Corse, Andrea, Rowin, Julie, Renton, Alan E., and Restagno, Gabriella

Subjects
immune system diseases, nervous system diseases
Abstract

Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood.

Published
2015
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216. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Author

Campbell, Craig, Barohn, Richard J, Bertini, Enrico, Chabrol, Brigitte, Comi, Giacomo Pietro, Darras, Basil T, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Iannaccone, Susan T, Jones, Kristi J, Kirschner, Janbernd, Mah, Jean K, Mathews, Katherine D, McDonald, Craig M, Mercuri, Eugenio, Nevo, Yoram, Péréon, Yann, Renfroe, J Ben, Ryan, Monique M, Sampson, Jacinda B, Schara, Ulrike, Sejersen, Thomas, Selby, Kathryn, Tulinius, Már, Vílchez, Juan J, Voit, Thomas, Wei, Lee-Jen, Wong, Brenda L, Elfring, Gary, Souza, Marcio, McIntosh, Joseph, Trifillis, Panayiota, Peltz, Stuart W, and Muntoni, Francesco

Abstract

Aim:Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). Materials & methods:Data from the two completed randomized controlled trials (ClinicalTrials.gov: NCT00592553; NCT01826487) of ataluren in nmDMD were combined to examine the intent-to-treat (ITT) populations and two patient subgroups (baseline 6-min walk distance [6MWD] ≥300–<400 or <400 m). Meta-analyses examined 6MWD change from baseline to week 48. Results:Statistically significant differences in 6MWD change with ataluren versus placebo were observed across all three meta-analyses. Least-squares mean difference (95% CI): ITT (n = 342), +17.2 (0.2–34.1) m, p = 0.0473; ≥300–<400 m (n = 143), +43.9 (18.2–69.6) m, p = 0.0008; <400 m (n = 216), +27.7 (6.4–49.0) m, p = 0.0109. Conclusion:These meta-analyses support previous evidence for ataluren in slowing disease progression versus placebo in patients with nmDMD over 48 weeks. Treatment benefit was most evident in patients with a baseline 6MWD ≥300–<400 m (the ambulatory transition phase), thereby informing future trial design.

Published
2020
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217. Peripheral Neuropathies, An Issue of Neurologic Clinics,

Author

Barohn, Richard J. and Barohn, Richard J.

Subjects
Nerves, Peripheral--Diseases
Abstract

Peripheral Neuropathy is a neurologic disorder characterized by damage to the peripheral nervous system, the part of the nervous system outside the central nervous system that connects it to all parts of the body. Over 100 forms of peripheral neuropathy have been identified. This issue of Neurologic Clinics features 12 articles about this disease that are of most interest to the clinician. Articles include: Diabetic Neuropathy; GBS and Variants; CIDP and Symmetrical Variants; Laboratory Evaluation of Peripheral Neuropathy; Treatment of Painful Peripheral Neuropathy;Cryptogenic Sensory Polyneuropathy; Vasculitic Neuropathy; Hereditary Neuropathy; Entrapment Neuropathy; Multifocal Motor Neuropathy and Multifocal Acquired Demyelinating Sensory and Motor Neuropathy; Nutritional Neuropathies.

Published
2013

218. Pompe Disease: Literature Review and Case Series

Author

Dasouki, Majed, Jawdat, Omar, Almadhoun, Osama, Pasnoor, Mamatha, McVey, April L., Abuzinadah, Ahmad, Herbelin, Laura, Barohn, Richard J., and Dimachkie, Mazen M.

Subjects
Adult, Male, Adolescent, Glycogen Storage Disease Type II, Child, Preschool, Mutation, Infant, Newborn, Humans, Female, Age of Onset, Child, Article
Abstract

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.

Published
2014

220. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Author

Gang, Qiang, primary, Bettencourt, Conceição, additional, Machado, Pedro M., additional, Brady, Stefen, additional, Holton, Janice L., additional, Pittman, Alan M., additional, Hughes, Deborah, additional, Healy, Estelle, additional, Parton, Matthew, additional, Hilton-Jones, David, additional, Shieh, Perry B., additional, Needham, Merrilee, additional, Liang, Christina, additional, Zanoteli, Edmar, additional, de Camargo, Leonardo Valente, additional, De Paepe, Boel, additional, De Bleecker, Jan, additional, Shaibani, Aziz, additional, Ripolone, Michela, additional, Violano, Raffaella, additional, Moggio, Maurizio, additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Mora, Marina, additional, Mantegazza, Renato, additional, Zanotti, Simona, additional, Singleton, Andrew B., additional, Hanna, Michael G., additional, Houlden, Henry, additional, Gang, Qiang, additional, Bettencourt, Conceicao, additional, McVey, April L., additional, Pasnoor, Mamatha, additional, Glenn, Melanie, additional, Jawdat, Omar, additional, Statland, Jeffrey, additional, Rico, Gabrielle, additional, Mastaglia, Frank, additional, Dalakas, Marinos C., additional, Biba, Angie, additional, Chinoy, Hector, additional, Lilleker, James B., additional, Lamb, Janine, additional, Platt, Hazel, additional, Cooper, Robert G., additional, Miller, James A.L., additional, Roberts, Mark, additional, Househam, Elizabeth, additional, Hilton, David, additional, Shivane, Aditya, additional, Bartlett, Amy, additional, Kissel, John T., additional, Runk, Heidi, additional, Wicklund, Matthew, additional, Saperstein, David S., additional, and McKinney, Lynette R., additional

Published
2016
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221. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

Author

van der Ploeg, Ans, primary, Carlier, Pierre G., additional, Carlier, Robert-Yves, additional, Kissel, John T., additional, Schoser, Benedikt, additional, Wenninger, Stephan, additional, Pestronk, Alan, additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Goker-Alpan, Ozlem, additional, Mozaffar, Tahseen, additional, Pena, Loren D.M., additional, Simmons, Zachary, additional, Straub, Volker, additional, Guglieri, Michela, additional, Young, Peter, additional, Boentert, Matthias, additional, Baudin, Pierre-Yves, additional, Wens, Stephan, additional, Shafi, Raheel, additional, Bjartmar, Carl, additional, and Thurberg, Beth L., additional

Published
2016
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222. A Bayesian comparative effectiveness trial in action: developing a platform for multisite study adaptive randomization

Author

Brown, Alexandra R., primary, Gajewski, Byron J., additional, Aaronson, Lauren S., additional, Mudaranthakam, Dinesh Pal, additional, Hunt, Suzanne L., additional, Berry, Scott M., additional, Quintana, Melanie, additional, Pasnoor, Mamatha, additional, Dimachkie, Mazen M., additional, Jawdat, Omar, additional, Herbelin, Laura, additional, and Barohn, Richard J., additional

Published
2016
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224. Compromised fidelity of B‐cell tolerance checkpoints in AChR and MuSK myasthenia gravis

Author

Lee, Jae‐Yun, primary, Stathopoulos, Panos, additional, Gupta, Sasha, additional, Bannock, Jason M., additional, Barohn, Richard J., additional, Cotzomi, Elizabeth, additional, Dimachkie, Mazen M., additional, Jacobson, Leslie, additional, Lee, Casey S., additional, Morbach, Henner, additional, Querol, Luis, additional, Shan, Jing‐Li, additional, Vander Heiden, Jason A., additional, Waters, Patrick, additional, Vincent, Angela, additional, Nowak, Richard J., additional, and O'Connor, Kevin C., additional

Published
2016
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225. Targeting protein homeostasis in sporadic inclusion body myositis

Author

Ahmed, Mhoriam, primary, Machado, Pedro M., additional, Miller, Adrian, additional, Spicer, Charlotte, additional, Herbelin, Laura, additional, He, Jianghua, additional, Noel, Janelle, additional, Wang, Yunxia, additional, McVey, April L., additional, Pasnoor, Mamatha, additional, Gallagher, Philip, additional, Statland, Jeffrey, additional, Lu, Ching-Hua, additional, Kalmar, Bernadett, additional, Brady, Stefen, additional, Sethi, Huma, additional, Samandouras, George, additional, Parton, Matt, additional, Holton, Janice L., additional, Weston, Anne, additional, Collinson, Lucy, additional, Taylor, J. Paul, additional, Schiavo, Giampietro, additional, Hanna, Michael G., additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, and Greensmith, Linda, additional

Published
2016
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226. Intravenous versus subcutaneous immunoglobulin – Authors' reply

Author

Sabet, Arman, George, Koshy, Roberts, Leslie, Carne, Ross, Blum, Stefan, Henderson, Robert, Van Damme, Philip, Demeestere, Jelle, Larue, Sandrine, Pinard D'Amour, Catherine-Andree, Bril, Vera, Breiner, Ari, Kunc, Pavel, Valis, Martin, Sussova, Jana, Kalous, Tomas, Talab, Radomir, Bednar, Michal, Toomsoo, Toomas, Rubanovits, Inna, Gross-Paju, Katrin, Sorro, Ulvi, Saarela, Mika, Auranen, Mari, Pouget, Jean, Attarian, Shahram, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Desnuelle, Claude, Delmont, Emilien, Clavelou, Pierre, Aufauvre, Dominique, Schmidt, Jens, Zschuentssch, Jana, Sommer, Claudia, Kramer, Daniela, Hoffmann, Olaf, Goerlitz, Carsten, Haas, Judith, Chatzopoulos, Marko, Yoon, Min-Suk, Gold, Ralf, Berlit, Peter, Jaspert-Grehl, Andrea, Liebetanz, David, Kutschenko, Anna, Stangel, Martin, Trebst, Corinna, Baum, Petra, Then Bergh, Florian, Klehmet, Juliane, Meisel, Andreas, Klostermann, Fabian, Oechtering, Johanna, Lehmann, Helmar, Schroeter, Michael, Hagenacker, Tim, Mueller, Daniel, Sperfeld, Anne-Dorte, Bethke, Florian, Hartung, Hans-Peter, Drory, Vivian, Algom, Avi, Yarnitsky, David, Murinson, Beth Brianna, Di Muzio, Antonio, Ciccocioppo, Fausta, Sorbi, Sandro, Mata, Sabrina, Schenone, Angelo, Grandis, Marina, Lauria, Giuseppe, Cazzato, Daniele, Antonini, Giovanni, Morino, Stefania, Cocito, Dario, Zibetti, Maurizio, Yokota, Takanori, Ohkubo, Takuya, Kanda, Takashi, Kawai, Motoharu, Kaida, Kenichi, Onoue, Hiroyuki, Kuwabara, Satoshi, Mori, Masahiro, Iijima, Masahiro, Ohyama, Ken, Sobue, Gen, Baba, Masayuki, Tomiyama, Masahiko, Nishiyama, Kazutoshi, Akutsu, Tsugio, Yokoyama, Kazumasa, Kanai, Kazuaki, van Schaik, Ivo N., Eftimov, Filip, Notermans, Nicolette. C., Visser, Nora. A., Faber, Catharina, Hoeijmakers, Janneke. G.J., Merkies, Ingemar S.J., van Geloven, Nan, Rejdak, Konrad, Chyrchel-Paszkiewicz, Urszula, Casanovas Pons, Carlos, Alberti Aguiló, María Antonia, Gamez, Josep, Figueras, María, Marquez Infante, Celedonio, Benitez Rivero, Sonia, Lunn, Michael, Morrow, Jasper, Gosal, David, Lavin, Timothy Myles, Melamed, Isaac, Testori, Alessandro, Ajroud-Driss, Senda, Menichella, Daniela, Simpson, Ericka, Chi-Ho Lai, Eugene, Dimachkie, Mazen, Barohn, Richard J., Beydoun, Said, Johl, Harpreet, Lange, Dale, Shtilbans, Alexander, Muley, Suraj, Ladha, Shafeeq, Freimer, Miriam, Kissel, John, Latov, Norman, Chin, Russell, Ubogu, Eroboghene, Mumfrey, Sandi, Rao, T. Hermanth P., MacDonald, Paul, Sharma, Khema, Gonzalez, Ginna, Allen, Jeffrey, Walk, David, Hobson-Webb, Lisa, Gable, Karissa, Lewis, Richard A., Cornblath, David R., Lawo, John-Phillip, Praus, Michaela, Durn, Billie L., Mielke, Orell, and van Schaik, Ivo N

Published
2018
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227. DIABETIC NEUROPATHY PART 2: PROXIMAL AND ASSYMMETRIC PHENOTYPES

Author

Pasnoor, Mamatha, Dimachkie, Mazen M., and Barohn, Richard J.

Subjects
Polyneuropathies, Phenotype, Diabetic Neuropathies, Diabetes Mellitus, Humans, Article
Abstract

Diabetic neuropathies consist of a variety of syndromes resulting from different types of damage to peripheral or cranial nerves. Although distal symmetric polyneuropathy is most common type of diabetic neuropathy, there are many other subtypes of diabetic neuropathies which have been defined since the 1800’s. Included in these descriptions are patients with proximal diabetic, truncal, cranial, median, and ulnar neuropathies. Various theories have been proposed for the pathogenesis of these neuropathies. The treatment of most of these requires tight and stable glycemic control. Spontaneous recovery is seen in most of these conditions with diabetic control Immunotherapies have been tried in some of these conditions but are quite controversial.

Published
2013

228. Phase II trial of methotrexate in myasthenia gravis

Author

Pasnoor, Mamatha, He, Jianghua, Herbelin, Laura, Dimachkie, Mazen, and Barohn, Richard J.

Subjects
Placebos, Methotrexate, Double-Blind Method, Myasthenia Gravis, Quality of Life, Humans, Article, Immunosuppressive Agents
Abstract

Prednisone is a frequently used treatment for myasthenia gravis (MG) but it has numerous side effects. Methotrexate is a selective inhibitor of dihydrofolate reductase and lymphocyte proliferation and is an effective immuosuppressive medication for autoimmune diseases. Given the negative results of the mycophenolate mofetil study, search for an effective immunosuppressant drug therapy is ongoing. The objective is to determine if oral methotrexate is safe and effective for MG patients who take prednisone. We have initiated a randomized, double-blind, placebo-controlled multicenter trial of methotrexate versus placebo in patients taking at least 10 mg/day of prednisone at enrollment. The methotrexate dose is increased to 20 mg and the prednisone dose is adjusted per protocol during the study. Clinical and laboratory evaluations are performed monthly for 12 months, with the primary efficacy measure being the nine-month prednisone area under the curve (AUC) from months 3 to 12. Secondary outcome measures include MG outcomes, quality of life measures, and a polyglutamation biomarker assay. A total of 18 U.S. sites and 2 Canadian sites are participating, with 48 screened cases, 42 enrolled, with 19 still active in the study.

Published
2012

229. Conducting a bayesian multi-armed trial with response adaptive randomization for comparative effectiveness of medications for CSPN

Author

Brown, Alexandra R., Gajewski, Byron J., Mudaranthakam, Dinesh Pal, Pasnoor, Mamatha, Dimachkie, Mazen M., Jawdat, Omar, Herbelin, Laura, Mayo, Matthew S., and Barohn, Richard J.

Abstract

Response adaptive randomization is popular in adaptive trial designs, but the literature detailing its execution is lacking. These designs are desirable for patients/stakeholders, particularly in comparative effectiveness research, due to the potential benefits including improving participant buy-in by providing more participants with better treatment during the trial. Frequentist approaches have often been used, but adaptive designs naturally fit the Bayesian methodology; it was developed to deal with data as they come in by updating prior information.

Published
2023
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236. Primary Lateral Sclerosis

Author

Statland, Jeffrey M., primary, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Floeter, Mary Kay, additional, and Mitsumoto, Hiroshi, additional

Published
2015
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237. Disease course and therapeutic approach in dermatomyositis: A four-center retrospective study of 100 patients

Author

Johnson, Nicholas E., primary, Arnold, W. David, additional, Hebert, Donald, additional, Gwathmey, Kelly, additional, Dimachkie, Mazen M., additional, Barohn, Richard J., additional, McVey, April L., additional, Pasnoor, Mamatha, additional, Amato, Anthony A., additional, McDermott, Michael P., additional, Kissel, John, additional, and Heatwole, Chad R., additional

Published
2015
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238. Phenotypic and molecular analyses of primary lateral sclerosis

Author

Mitsumoto, Hiroshi, primary, Nagy, Peter L., additional, Gennings, Chris, additional, Murphy, Jennifer, additional, Andrews, Howard, additional, Goetz, Raymond, additional, Floeter, Mary Kay, additional, Hupf, Jonathan, additional, Singleton, Jessica, additional, Barohn, Richard J., additional, Nations, Sharon, additional, Shoesmith, Christen, additional, Kasarskis, Edward, additional, and Factor-Litvak, Pam, additional

Published
2015
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239. Randomized phase 2 trial of NP001, a novel immune regulator

Author

Miller, Robert G., primary, Block, Gilbert, additional, Katz, Jonathan S., additional, Barohn, Richard J., additional, Gopalakrishnan, Vidhya, additional, Cudkowicz, Merit, additional, Zhang, Jane R., additional, McGrath, Michael S., additional, Ludington, Elizabeth, additional, Appel, Stan H., additional, and Azhir, Ari, additional

Published
2015
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240. A Genome-Wide Association Study of Myasthenia Gravis

Author

Renton, Alan E., primary, Pliner, Hannah A., additional, Provenzano, Carlo, additional, Evoli, Amelia, additional, Ricciardi, Roberta, additional, Nalls, Michael A., additional, Marangi, Giuseppe, additional, Abramzon, Yevgeniya, additional, Arepalli, Sampath, additional, Chong, Sean, additional, Hernandez, Dena G., additional, Johnson, Janel O., additional, Bartoccioni, Emanuela, additional, Scuderi, Flavia, additional, Maestri, Michelangelo, additional, Gibbs, J. Raphael, additional, Errichiello, Edoardo, additional, Chiò, Adriano, additional, Restagno, Gabriella, additional, Sabatelli, Mario, additional, Macek, Mark, additional, Scholz, Sonja W., additional, Corse, Andrea, additional, Chaudhry, Vinay, additional, Benatar, Michael, additional, Barohn, Richard J., additional, McVey, April, additional, Pasnoor, Mamatha, additional, Dimachkie, Mazen M., additional, Rowin, Julie, additional, Kissel, John, additional, Freimer, Miriam, additional, Kaminski, Henry J., additional, Sanders, Donald B., additional, Lipscomb, Bernadette, additional, Massey, Janice M., additional, Chopra, Manisha, additional, Howard, James F., additional, Koopman, Wilma J., additional, Nicolle, Michael W., additional, Pascuzzi, Robert M., additional, Pestronk, Alan, additional, Wulf, Charlie, additional, Florence, Julaine, additional, Blackmore, Derrick, additional, Soloway, Aimee, additional, Siddiqi, Zaeem, additional, Muppidi, Srikanth, additional, Wolfe, Gil, additional, Richman, David, additional, Mezei, Michelle M., additional, Jiwa, Theresa, additional, Oger, Joel, additional, Drachman, Daniel B., additional, and Traynor, Bryan J., additional

Published
2015
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241. The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Author

Gang, Qiang, primary, Bettencourt, Conceicao, additional, Machado, Pedro M., additional, Fox, Zoe, additional, Brady, Stefen, additional, Healy, Estelle, additional, Parton, Matt, additional, Holton, Janice L., additional, Hilton-Jones, David, additional, Shieh, Perry B., additional, Zanoteli, Edmar, additional, De Paepe, Boel, additional, De Bleecker, Jan, additional, Shaibani, Aziz, additional, Ripolone, Michela, additional, Violano, Raffaella, additional, Moggio, Maurizio, additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Mora, Marina, additional, Mantegazza, Renato, additional, Zanotti, Simona, additional, Hanna, Michael G., additional, and Houlden, Henry, additional

Published
2015
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242. A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa

Author

Thurberg, Beth L., primary, Carlier, Pierre, additional, Kissel, John T., additional, Schoser, Benedikt, additional, Pestronk, Alan, additional, Barohn, Richard J., additional, Goker-Alpan, Ozlem, additional, Mozaffar, Tahseen, additional, Pena, Loren D.M., additional, Simmons, Zachary, additional, Straub, Volker, additional, Young, Peter, additional, Shafi, Raheel, additional, Bjartmar, Carl, additional, and van der Ploeg, Ans, additional

Published
2015
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244. Contributors

Author

Aaen, Gregory S., Abend, Nicholas Scott, Abou-Hamden, Amal, Allen, Jeffrey C., Amato, Anthony A., Amlie-Lefond, Catherine, Ashwal, Stephen, Bailey, Russell C., Bale, James F., Jr., Banwell, Brenda, Barañano, Kristin W., Barkovich, A. James, Barohn, Richard J., Bartels, Ute K., Bartnik-Olson, Brenda, Barzilai, Ori, Bassuk, Alexander, Bearden, David R., Ben-Sira, Liat, Bernard, Timothy J., Berry-Kravis, Elizabeth, Beslow, Lauren A., Biegel, Jaclyn A., Billinghurst, Lori, Birnbaum, Angela K., Blackburn, Joanna S., Bobowski, Nuala, Boire, Adrienne, Bönnemann, Carsten G., Bonifacio, Sonia L., Bonthius, Daniel J., Borcherding, Breck, Branchford, Brian R., Brandsema, John, Brennan, Kathryn M., Brenton, J. Nicholas, Brooks-Kayal, Amy R., Brown, Lawrence W., Buchalter, Jeffrey, Camfield, Carol S., Camfield, Peter R., Campoy, Cristina, Carpenter, Jessica L., Chang, Taeun, Chau, Vann, Chi, Susan N., Chiriboga, Claudia A., Cho, Yoon-Jae, Christian, Cindy W., Chrestian, Nicholas, Cilio, Maria Roberta, Clark, Robin D., Cohen, Bruce H., Cohn, Ronald D., Connolly, Anne M., Constable, Todd, Constantini, Shlomi, Conway, Jeannine M., Coulter, David L., Cowan, Tina M., Dale, Russell C., Darbro, Benjamin, Darras, Basil T., Dastgir, Jahannaz, De Meirleir, Linda, De Vivo, Darryl C., de Vries, Linda S., Deisch, Jeremy K., Deltenre, Paul, Desai, Jay, Descartes, Maria, deVeber, Gabrielle, Dhamne, Sameer C., Diaz, Jullianne, DiMauro, Salvatore, Dobyns, William B., Doherty, Dan, Donner, Elizabeth J., Dosenbach, Nico U.F., Dowling, James J., Drake, James M., Ejerskov, Cecile, Engel, Andrew G., Enns, Gregory M., Escolano-Margarit, María Victoria, Etzion, Iris, Fatemi, S. Ali, Fehlings, Darcy L., Feinberg, Michelle Lauren, Ferriero, Donna M., Filipek, Pauline A., Finkel, Richard S., Fisher, Paul G., Flanigan, Kevin, Foreman, Nicholas K., Franco, Israel, Frank, Yitzchak, Fredrick, Douglas R., Freeze, Hudson H., Fuente-Mora, Cristina, Furman, Joseph M., Gallagher, Renata C., Garel, Catherine, Gertsch, Emily, Gilbert, Donald L., Gilles, Elizabeth E., Giza, Christopher C., Glaser, Carol A., Glass, Hannah C., Glauser, Tracy, Glykys, Joseph, Goldstein, Amy, Gonorazky, Hernan Dario, Gonzalez, Rodolfo, Goodkin, Howard P., Graham, John M., Jr., Greninger, Alexander L., Gronseth, Gary, Gropman, Andrea L., Grundy, Richard, Guerrini, Renzo, Gupta, Nalin, Hahn, Jin S., Hamblin, Milton H., Hani, Abeer J., Hanmantgad, Sharyu, Harbert, Mary J., Harini, Chellamani, Harriott, Andrea M., Heatwole, Chad, Hershey, Andrew D., Hirtz, Deborah G., Holmes, Gregory L., Holshouser, Barbara A., Hurwitz, Kathleen A., Hwang, Eugene, Ichord, Rebecca N., Jafar-Nejad, Paymaan, Jain, Sejal V., Jordan, Lori, Kabbouche, Marielle A., Kacperski, Joanne, Kang, Peter B., Kariannis, Matthias A., Kaufmann, Horacio, Kaye, Harper L., Keating, Robert, Kennedy, Colin R., Khakoo, Yasmin, Kirton, Adam, Kissel, John T., Knupp, Kelly G., Korf, Bruce R., Kossoff, Eric H., Kothare, Sanjeev V., Kupfer, Oren, LaFrance, W. Curt, Jr., Latal, Beatrice, Leber, Steven M., Lee, Jean-Pyo, Leppik, Ilo E., Lerman-Sagie, Tally, Lerner, Jason T., Leventer, Richard J., Licht, Daniel J., Lichter-Konecki, Uta, Lidar, Zvi, Liem, Djin Gie, Loddenkemper, Tobias, Long, Roger K., Luc, Quyen N., Mackay, Mark, Majnemer, Annette, Makhani, Naila, Malinger, Gustavo, Mandelbaum, David E., Maricich, Stephen M., Maski, Kiran P., Mathur, Mudit, Matthews, Dennis J., McMahon, Kelly, DeMara-Hoth, Megan B., Mendelsohn, Bryce, Mennella, Julie A., Ment, Laura R., Mercuri, Eugenio, Michelson, David J., Mikati, Mohamad A., Mikhail, Fady M., Miller, Steven Paul, Milunsky, Jeff M., Mink, Jonathan W., Mirzaa, Ghayda M., Mitchell, Wendy G., Mohan, Michael A., Mohassel, Payam, Moharir, Mahendranath, Monani, Umrao R., Monje Deisseroth, Michelle, Moodley, Manikum, Mower, Andrew, Moxley, Richard T., III, Mueller, Sabine, Muotri, Alysson R., Nagamani, Sandesh C.S., Narayanan, Mohan J., Narayanan, Vinodh, Nass, Ruth D., Neul, Jeffrey L., Nevo, Yoram, Ng, Bobby G., Nickels, Katherine C., Nimmo, Graeme A.M., Noetzel, Michael J., Norcliffe-Kaufmann, Lucy, Nordli, Douglas R., Jr., Nowak-Göttl, Ulrike, O'Brien, Hope L., Oleszek, Joyce, Oskoui, Maryam, Paciorkowski, Alex R., Packer, Roger J., Packman, Seymour, Palma, Jose-Alberto, Pardo, Andrea C., Parsons, Julie A., Partridge, John Colin, Pastores, Gregory M., Patterson, Marc C., Pearce, William J., Pearl, Phillip L., Penner, Melanie, Percival, Leila, Pereira, Marcia, Pfister, Stefan M., Phillips, John, Plecko, Barbara, Plioplys, Sigita, Poduri, Annapurna, Poisson, Sharon, Pomeroy, Scott L., Poretti, Andrea, Powers, Scott W., Pranzatelli, Michael R., Przekop, Allison, Rabie, Malcolm, Rangasamy, Sampathkumar, Raymond, Gerald V., Reddy, Alyssa T., Rendleman, Rebecca L., Rho, Jong M., Rodan, Lance H., Roddy, Sarah M., Rogers, Elizabeth E., Rosenthal, Stephen M., Rosman, N. Paul, Ross, M. Elizabeth, Rotenberg, Alexander, Rust, Robert S., Sanchez, Cheryl P., Sanchez, Pedro, Sánchez Fernández, Iván, Sands, Tristan T., Sanger, Terence D., Sannagowdara, Kumar, Scheinost, Dustin, Scher, Mark S., Schor, Nina F., Schrauwen, Isabelle, Segal, Michael M., Seinfeld, Syndi, Selcen, Duygu, Seltzer, Laurie E., Semrud-Clikeman, Margaret, Shaw, Dennis W., Shaywitz, Bennett A., Shaywitz, Sally E., Shellhaas, Renée A., Sherr, Elliott H., Sheth, Rita D., Shevell, Michael I., Shinnar, Shlomo, Shofty, Ben, Shu, Stanford K., Shy, Michael E., Silveira Moriyama, Laura, Silvestri, Nicholas J., Sims, Katherine B., Singer, Harvey S., Singhal, Nilika Shah, Smith, Craig M., Smith, Edward, Smith, Stephen A., Snyder, Evan Y., Soul, Janet, Spalink, Christy L., Spencer, Karen A., Stafstrom, Carl E., Steinfeld, Robert, Strober, Jonathan B., Sullivan, Joseph, Swaiman, Kenneth F., Swoboda, Kathryn J., Tate, Elizabeth D., Tatum, William O., IV, Tein, Ingrid, Tekulve, Kristyn, Tenney, Jeffrey R., Thiele, Elizabeth A., Thompson-Stone, Robert, Tochen, Laura, Tormoehlen, Laura M., Tran, Lily, Trauner, Doris A., Turnacioglu, Sinan O., Ullrich, Nicole J., Urion, David K., Van Camp, Guy, Van Hirtum-Das, Michèle, van Karnebeek, Clara D.M., Van Maldergem, Lionel, Vanderver, Adeline, Vitanza, Nicholas A., von Rhein, Michael, von Scheven, Emily, Wagner, Ann, Wainwright, Mark S., Walker, Melissa A., Walkup, John T., Walsh, Laurence, Walters-Sen, Lauren C., Wang, Raymond Y., Warner, Thomas T., Whelan, Harry T., Weinberg, Geoffrey A., Wells, Elizabeth M., Wheless, James W., Wirrell, Elaine C., Wisoff, Jeffrey H., Wolf, Nicole I., Wolfe, Gil I., Wright, F. Virginia, Wycliffe, Nathaniel D., Yang, Michele L., Yuskaitis, Christopher J., Zoghbi, Huda Y., and Zupanc, Mary L.

Published
2017
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245. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups.

Author

Lundberg, Ingrid E., Tjärnlund, Anna, Bottai, Matteo, Werth, Victoria P., Pilkington, Clarissa, de Visser, Marianne, Alfredsson, Lars, Amato, Anthony A., Barohn, Richard J., Liang, Matthew H., Singh, Jasvinder A., Aggarwal, Rohit, Arnardottir, Snjolaug, Chinoy, Hector, Cooper, Robert G., Dankó, Katalin, Dimachkie, Mazen M., Feldman, Brian M., La Torre, Ignacio Garcia-De, and Gordon, Patrick

Abstract

Objective: To develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups.Methods: Candidate variables were assembled from published criteria and expert opinion using consensus methodology. Data were collected from 47 rheumatology, dermatology, neurology and paediatric clinics worldwide. Several statistical methods were used to derive the classification criteria.Results: Based on data from 976 IIM patients (74% adults; 26% children) and 624 non-IIM patients with mimicking conditions (82% adults; 18% children), new criteria were derived. Each item is assigned a weighted score. The total score corresponds to a probability of having IIM. Subclassification is performed using a classification tree. A probability cut-off of 55%, corresponding to a score of 5.5 (6.7 with muscle biopsy) 'probable IIM', had best sensitivity/specificity (87%/82% without biopsies, 93%/88% with biopsies) and is recommended as a minimum to classify a patient as having IIM. A probability of ≥90%, corresponding to a score of ≥7.5 (≥8.7 with muscle biopsy), corresponds to 'definite IIM'. A probability of <50%, corresponding to a score of <5.3 (<6.5 with muscle biopsy), rules out IIM, leaving a probability of ≥50 to <55% as 'possible IIM'.Conclusions: The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for IIM have been endorsed by international rheumatology, dermatology, neurology and paediatric groups. They employ easily accessible and operationally defined elements, and have been partially validated. They allow classification of 'definite', 'probable' and 'possible' IIM, in addition to the major subgroups of IIM, including juvenile IIM. They generally perform better than existing criteria. [ABSTRACT FROM AUTHOR]

Published
2017
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248. Lingual-Alveolar Contact Pressure During Speech in Amyotrophic Lateral Sclerosis: Preliminary Findings.

Author

Searl, Jeff, Knollhoff, Stephanie, and Barohn, Richard J.

Subjects
AMYOTROPHIC lateral sclerosis, ALVEOLAR process, FATIGUE (Physiology), PHYSIOLOGICAL aspects of speech, TONGUE physiology, PATIENTS, COMMUNICATION, ELECTROPHYSIOLOGY, PRESSURE, RESEARCH funding, SPEECH, SPEECH therapy, STATISTICS, T-test (Statistics), TONGUE, DATA analysis, SEVERITY of illness index, DESCRIPTIVE statistics, MANN Whitney U Test, KRUSKAL-Wallis Test, INTRACLASS correlation
Abstract

Purpose: This preliminary study on lingual-alveolar contact pressures (LACP) in people with amyotrophic lateral sclerosis (ALS) had several aims: (a) to evaluate whether the protocol induced fatigue, (b) to compare LACP during speech (LACP-Sp) and during maximum isometric pressing (LACP-Max) in people with ALS (PALS) versus healthy controls, (c) to compare the percentage of LACP-Max utilized during speech (%Max) for PALS versus controls, and (d) to evaluate relationships between LACP-Sp and LACP-Max with word intelligibility. Method: Thirteen PALS and 12 healthy volunteers produced /t, d, s, z, l, n/ sounds while LACP-Sp was recorded. LACP-Max was obtained before and after the speech protocol. Word intelligibility was obtained from auditory-perceptual judgments. Results: LACP-Max values measured before and after completion of the speech protocol did not differ. LACP-Sp and LACP-Max were statistically lower in the ALS bulbar group compared with controls and PALS with only spinal symptoms. There was no statistical difference between groups for %Max. LACP-Sp and LACP-Max were correlated with word intelligibility. Conclusions: It was feasible to obtain LACP-Sp measures without inducing fatigue. Reductions in LACP-Sp and LACP-Max for bulbar speakers might reflect tongue weakness. Although confirmation of results is needed, the data indicate that individuals with high word intelligibility maintained LACP-Sp at or above 2 kPa and LACP-Max at or above 50 kPa. [ABSTRACT FROM AUTHOR]

Published
2017
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249. Activity for Diabetic Polyneuropathy (ADAPT): Study Design and Protocol for a 2-Site Randomized Controlled Trial.

Author

Kluding, Patricia M., Singleton, J. Robinson, Pasnoor, Mamatha, Dimachkie, Mazen M., Barohn, Richard J., Smith, A. Gordon, and Marcus, Robin L.

Subjects
TREATMENT of diabetic neuropathies, TYPE 2 diabetes complications, BEHAVIOR modification, HEALTH behavior, RESEARCH methodology, PHYSICAL therapy, QUALITY of life, RESEARCH funding, RANDOMIZED controlled trials, DISEASE progression, PHYSICAL activity
Abstract

The article discusses research which investigated the impact of an intense lifestyle intervention on neuropathy progression and quality of life in individuals with diabetic peripheral neuropathy (DPN). Topics discussed include the administration of 18 months of supervised exercise training, actigraphy-based counseling and individualize dietary counseling to the intervention group, neuropathy progression as measured by intraepidermal nerve fiber density and limitations of the study.

Published
2017
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