DMD - BIOMARKERS: EP.158 Robust spectral confocal microscopy dystrophin automatic quantification method by Codina, A. Anna, Roldán, M. Mònica, Ortez, C. Carlos, Mataolonga, L. Leslie, Cuadras, D. Daniel, Natera, D. Daniel, Corbera, J. Juan Ramon, Carrera, L. Laura, Exposito, J. Jesica María, Márquez, J. Jesús, Jimenez, C. Cecilia, Porta, J. Josep, Nascimento, A. Andres, Jou, C. Cristina

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DMD - BIOMARKERS by Codina, A. Anna, Roldán, M. Mònica, Ortez, C. Carlos, Mataolonga, L. Leslie, Cuadras, D. Daniel, Natera, D. Daniel, Corbera, J. Juan Ramon, Carrera, L. Laura, Exposito, J. Jesica María, Márquez, J. Jesús, Jimenez, C. Cecilia, Porta, J. Josep, Nascimento, A. Andres, Jou, C. Cristina

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SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1 by Cao, Xinyu, Lake, Madryn, Van der Hoeven, Gerd, Claes, Zander, del Pino García, Javier, Lemaire, Sarah, Greiner, Elora C., Karamanou, Spyridoula, Van Eynde, Aleyde, Kettenbach, Arminja N., Natera de Benito, Daniel, Carrera García, Laura, Hernando Davalillo, Cristina, Ortez, Carlos, Nascimento, Andrés, Urreizti, Roser, Bollen, Mathieu

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Ataluren treatment of patients with nonsense mutation dystrophinopathy by Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., O'donnell, Michael W., Peltz, Stuart W., Mcdonald, Craig M.

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McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance by Vidal-Sanahuja, R, Ortez-González, C I, Nascimento-Osorio, A, Colomer-Oferil, J

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Clinical presentation and proteomic signature of patients with TANGO2 mutations by Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy by Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

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Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency by Ortez, Carlos, Villar, Cristina, Fons, Carmen, Duarte, Sofía T., Pérez, Ana, García-Villoria, Judith, Ribes, Antonia, Ormazábal, Aida, Casado, Mercedes, Campistol, Jaume, Vilaseca, Maria Antonia, García-Cazorla, Angels

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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype by Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Cazorla, Angeles Garcia

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