Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
Muntoni, Francesco, Desguerre, Isabelle, Guglieri, Michela, Osorio, Andrés Nascimento, Kirschner, Janbernd, Tulinius, Már, Buccella, Filippo, Elfring, Gary, Werner, Christian, Schilling, Traci, Trifillis, Panayiota, Zhang, Olivia, Delage, Abdallah, Santos, Claudio L, Mercuri, Eugenio
Published in Journal of comparative effectiveness research (01.10.2019)
Published in Journal of comparative effectiveness research (01.10.2019)
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Parasyri, Maria, Brandström, Per, Uusimaa, Johanna, Ostergaard, Elsebet, Hikmat, Omar, Isohanni, Pirjo, Naess, Karin, de Coo, I.F.M., Nascimento Osorio, Andrés, Nuutinen, Matti, Lindberg, Christopher, Bindoff, Laurence A., Tulinius, Már, Darin, Niklas, Sofou, Kalliopi
Published in Kidney diseases (24.01.2022)
Published in Kidney diseases (24.01.2022)
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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Gamma‐aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
Cortès‐Saladelafont, Elisenda, Molero‐Luis, Marta, Cuadras, Daniel, Casado, Mercedes, Armstrong‐Morón, Judith, Yubero, Dèlia, Montoya, Julio, Artuch, Rafael, García‐Cazorla, Àngels, Ramos, Federico, Sierra, Cristina, Ormazábal, Aida, O'Callaghan‐Gordo, Mar, Nascimento‐Osorio, Andrés, Ortez‐González, Carlos Ignacio, Sanmartí‐Vilaplana, Francesc, Fons, Carme, González‐Álvarez, Verónica, Pérez‐Dueñas, Belén, Darling, Alejandra, Ortigoza‐Escobar, Juan Darío, Poo, Pilar, Duarte, Sofia, García‐Alix, Alfredo, Emperador, Sonia, Ruiz‐Pesini, Eduardo
Published in Developmental medicine and child neurology (01.08.2018)
Published in Developmental medicine and child neurology (01.08.2018)
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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
El-Hassar, Lynda, Amara, Ahmed, Sanson, Benoit, Lacatus, Oana, Amir Belhouchet, Ahmed, Kroneman, Madelon, Claeys, Kristl, Plançon, Jean Philippe, Rodolico, Carmelo, Primiano, Guido, Trojsi, Francesca, Filosto, Massimiliano, Mongini, Tiziana Enrica, Bortolani, Sara, Monforte, Mauro, Carraro, Elena, Maggi, Lorenzo, Ricci, Federica, Silani, Vincenzo, Orsucci, Daniele, Créange, Alain, Péréon, Yann, Stojkovic, Tanya, van der Beek, Nadine Anna Maria Elisabeth, Toscano, Antonio, Pareyson, Davide, Attarian, Shahram, Van den Bergh, Peter Y K, Remiche, Gauthier, Hoeijmakers, Janneke G J, Badrising, Umesh, Voermans, Nicol C, Kaindl, Angela M, Schara-Schmidt, Ulrike, Schoser, Benedikt, Gazzerro, Elisabetta, Haberlová, Jana, Voháňka, Stanislav, Pál, Endre, Molnar, Maria Judit, Leonardis, Lea, Tournev, Ivailo L, Osorio, Andrés Nascimento, Olivé, Montse, Muelas, Nuria, Alonso-Perez, Jorge, Plá, Francesc, de Visser, Marianne, Siciliano, Gabriele, Sacconi, Sabrina
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
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Clinical Variability in Spinal Muscular Atrophy Type III
Coratti, Giorgia, Messina, Sonia, Lucibello, Simona, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Bovis, Francesca, Exposito Escudero, Jessica, Mazzone, Elena Stacy, Mayhew, Anna, Glanzman, Allan M., Young, Sally Dunaway, Salazar, Rachel, Duong, Tina, Muni Lofra, Robert, De Sanctis, Roberto, Carnicella, Sara, Milev, Evelin, Civitello, Matthew, Pane, Marika, Scoto, Mariacristina, Bettolo, Chiara Marini, Antonaci, Laura, Frongia, Annalia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, Van Den Hauwe, Marleen, Albamonte, Emilio, Goemans, Nathalie, Darras, Basil T., Bertini, Enrico, Sansone, Valeria, Day, John, Nascimento Osorio, Andres, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio
Published in Annals of neurology (01.12.2020)
Published in Annals of neurology (01.12.2020)
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Gain and loss of abilities in type II SMA: A 12-month natural history study
Coratti, Giorgia, Lucibello, Simona, Pera, Maria C, Duong, Tina, Muni Lofra, Robert, Civitello, Matthew, D'Amico, Adele, Goemans, Nathalie, Darras, Basil T, Bruno, Claudio, Sansone, Valeria A, Day, John, Nascimento Osorio, Andres, Muntoni, Francesco, Montes, Jaccqueline, Sframeli, Maria, Finkel, Richard, Mercuri, Eugenio
Published in Neuromuscular disorders : NMD (01.09.2020)
Published in Neuromuscular disorders : NMD (01.09.2020)
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Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis
Mercuri, Eugenio, Osorio, Andrés Nascimento, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria Bernadete Dutra, Morgenroth, Lauren P., Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik K., McDonald, Craig M.
Published in Journal of neurology (01.08.2023)
Published in Journal of neurology (01.08.2023)
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Absence of Pathogenic Mutations and Strong Association With HLA-DRB111:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy
Llansó, Laura, Segarra-Casas, Alba, Domínguez-González, Cristina, Malfatti, Edoardo, Kapetanovic, Solange, Rodríguez-Santiago, Benjamín, de la Calle, Oscar, Blanco, Rosa, Dobrescu, Amelia, Nascimento-Osorio, Andrés, Paipa, Andrés, Hernandez-Lain, Aurelio, Jou, Cristina, Mariscal, Anaís, González-Mera, Laura, Arteche, Ana, Lleixà, Cinta, Caballero-Ávila, Marta, Carbayo, Álvaro, Vesperinas, Ana, Querol, Luis, Gallardo, Eduard, Olivé, Montse
Published in Neurology : neuroimmunology & neuroinflammation (01.09.2024)
Published in Neurology : neuroimmunology & neuroinflammation (01.09.2024)
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Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis
Mercuri, Eugenio, Osorio, Andrés Nascimento, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria Bernadete Dutra, Morgenroth, Lauren P., Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik K., McDonald, Craig M.
Published in Journal of neurology (01.09.2023)
Published in Journal of neurology (01.09.2023)
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Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial
Shieh, Perry B., Mcintosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W., Mcdonald, Craig M., Darras, Basil T.
Published in Muscle & nerve (01.11.2018)
Published in Muscle & nerve (01.11.2018)
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients
Alonso-Pérez, Jorge, Semplicini, Claudio, González-Quereda, Lidia, Guglieri, Michela, Straub, Volker, Gallano Petit, Pia, Pegoraro, Elena, Nascimento Osorio, Andrés, Ortez Gonzalez, Carlos Ignacio, Comi, Giacomo, de Visser, Marianne, van Der Kooi, A.J., Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuss, Andrea, Løkken, Nicoline, Vissing, John, Schoser, Benedikt, Udd, Bjarne, d'Amico, Adele, Politano, Luisa, Bruno, Claudio, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl, Gomez-Andrés, David, Munell, Francina, Haberlová, Jana, Elke, de Vos, de Bleecker, Jan, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain Arregui, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J, Schwartz, Benjamin D, Harper, Amy D, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michelle L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard, McMillan, Hugh J, Kuntz, Nancy L, Rao, Vashmi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, de Groot, Imelda JM, Katsalouli, Marina, James, Meredith K, van den Anker, Johannes, Damsker, Jesse M, Ahmet, Alexandra, Ward, Leanne M, Jaros, Mark, Shale, Phil, Dang, Utkarsh J, Hoffman, Eric P
Published in Archives of neurology (Chicago) (01.10.2022)
Published in Archives of neurology (Chicago) (01.10.2022)
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McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance
Vidal-Sanahuja, R, Ortez-González, C I, Nascimento-Osorio, A, Colomer-Oferil, J
Published in Revista de neurologiá (16.09.2022)
Published in Revista de neurologiá (16.09.2022)
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Journal Article
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
Dang, Utkarsh J, Damsker, Jesse M, Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie M, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin D, Harper, Amy, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michele L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard I, Mcmillan, Hugh J, Kuntz, Nancy, Rao, Vamshi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, De Groot, Imelda J M, Katsalouli, Marina, Van Den Anker, John N, Ward, Leanne M, Leinonen, Mika, D'Alessandro, Andrea L, Hoffman, Eric P
Published in Neurology (12.03.2024)
Published in Neurology (12.03.2024)
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