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Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy Harper, Amy D.; Topaloglu, Haluk; Mercuri, Eugenio; Suslov, Vasiliy; Wu, Liwen; Ayanoglu, Cigdem Y.; Tansey, Michael; Previtera, Michelle L.; Crozier, Robert A.; Magnus, Leslie; Clemens, Paula R. Share Save
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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome van Doorn, Pieter A.; van den Bergh, Peter Y. K.; Hadden, Robert D. M.; Avau, Bert; Vankrunkelsven, Patrik; Attarian, Shahram; Blomkwist-Markens, Patricia H.; Cornblath, David R.; Goedee, H. Stephan; Harbo, Thomas; Jacobs, Bart C.; Kusunoki, Susumu; Lehmann, Helmar C.; Lewis, Richard A.; Lunn, Michael P.; Nobile-Orazio, Eduardo; Querol, Luis; Rajabally, Yusuf A.; Umapathi, Thirugnanam; Topaloglu, Haluk A.; Willison, Hugh J. Share Save
Neuromuscular disease genetics in under-represented populations: increasing data diversity Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G. Share Save
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FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace Share Save
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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision Van den Bergh, Peter Y. K.; van Doorn, Pieter A.; Hadden, Robert D. M.; Avau, Bert; Vankrunkelsven, Patrik; Allen, Jeffrey A.; Attarian, Shahram; Blomkwist-Markens, Patricia H.; Cornblath, David R.; Eftimov, Filip; Goedee, H. Stephan; Harbo, Thomas; Kuwabara, Satoshi; Lewis, Richard A.; Lunn, Michael P.; Nobile-Orazio, Eduardo; Querol, Luis; Rajabally, Yusuf A.; Sommer, Claudia; Topaloglu, Haluk A. Share Save
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia Ghosh, Shereen G.; Breuss, Martin W.; Schlachetzki, Zinayida; Chai, Guoliang; Ross, Danica; Stanley, Valentina; Sonmez, F. Mujgan; Topaloglu, Haluk; Zaki, Maha S.; Hosny, Heba; Gad, Shaimaa; Gleeson, Joseph G. Share Save
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith Share Save
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis Sag, Erdal; Kale, Gulsev; Haliloglu, Goknur; Bilginer, Yelda; Akcoren, Zuhal; Orhan, Diclehan; Gucer, Safak; Topaloglu, Haluk; Ozen, Seza; Talim, Beril Share Save
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials Silwal, Arpana; Sarkozy, Anna; Scoto, Mariacristina; Ridout, Deborah; Schmidt, Anne; Laverty, Aidan; Henriques, Matilde; D'Argenzio, Luigi; Main, Marion; Mein, Rachael; Manzur, Adnan Y.; Abel, Francois; Al-Ghamdi, Fouad; Genetti, Casie A.; Ardicli, Didem; Haliloglu, Goknur; Topaloglu, Haluk; Beggs, Alan H.; Muntoni, Francesco Share Save
The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series Villar-Quiles, Rocio N.; von Der Hagen, Maja; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana Share Save