Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord von Wongkittichote, Parith, Choi, Tae‐Ik, Kim, Oc‐Hee, Riley, Kacie, Koeberl, Dwight, Narayanan, Vinodh, Ramsey, Keri, Balak, Chris, Schwartz, Charles E., Cueto‐Gonzalez, Anna Maria, Casadesus, Francina Munell, Kim, Cheol‐Hee, Shinawi, Marwan S.

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia

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eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics von Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet Janssen, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun G, Schott, Jean-Jacques, Munell Casadesús, Francina, Colobran, Roger, Macaya Ruiz, Alfons, Estivill, Xavier, 1955, Ossowski, Stephan

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Brainstem dysgenesis: beyond Moebius syndrome von Munell, F, Tormos, M A, Roig-Quilis, M

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Disgenesia troncoencefálica: más allá del síndrome de Moebius von Munell Casadesús, Francina, Tormos Muñoz, Mª Angeles, Roig Quilis, Manel

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana, Paco Mercader, Sonia, Jou, Cristina, Rodríguez, María Angeles, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidro (Ferrer Abizanda), Roig Quilis, Manuel, Munell Casadesús, Francina, Montoya, Julio, López Gallardo, Ester, Ruiz Pesini, Eduardo, Artuch Iriberri, Rafael, Montero Sánchez, Raquel, Torner Rubies, Ferran, Nascimento, Andrés, Ortez, Carlos Ignacio, Colomer Oferil, Jaume, Jiménez Mallebrera, Cecilia

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana, Paco Mercader, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidro (Ferrer Abizanda), Roig Quilis, Manuel, Munell Casadesús, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch Iriberri, Rafael, Montero Sánchez, Raquel, Torner Rubies, Ferran, Nascimento, Andrés, Ortez, Carlos Ignacio, Colomer, Jaume, Jiménez Mallebrera, Cecilia

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana, Paco Mercader, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidro (Ferrer Abizanda), Roig Quilis, Manuel, Munell Casadesús, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch Iriberri, Rafael, Montero Sánchez, Raquel, Torner Rubies, Ferran, Nascimento, Andrés, Ortez, Carlos Ignacio, Colomer, Jaume, Jiménez Mallebrera, Cecilia

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Consenso Delphi de las recomendaciones para el tratamiento de los pacientes con atrofia muscular espinal en España (consenso RET-AME) von Pitarch Castellano, I, Cabrera Serrano, Macarena, Espinosa García, S, Fernández Ramos, J.A, García Campos, Ó, Cattinari, M.G, Grimalt Calatayud, M.A, Gutiérrez Martínez, A.J, Ibáñez Albert, E, Kapetanovic García, Solange, Madruga Garrido, Marcos, Martinez Moreno, Margot, Medina Cantillo, J, Melián Suárez, A.I, Moreno Escribano, A, Munell Casadesús, Francina, Nascimento Osorio, A, Pascual Pascual, S.I, Povedano Casiano, M, Santana Casiano, I.M, Vázquez Costa, Juan F, Calvo Medina, R, Gómez Andrés, David

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BS06. Characteristic electromyographic pattern in complete congenital facial paralysis von Viñola, Margarida Gratacòs, Sanz, Núria Raguer, Seoane Reboredo, José Luís, Samper, Elena Lainez, Casadesus, Francina Munell, Bertran, Lluïsa Torrent, Garcia-Carpintero, Angel Sanchez-Montañez

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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up von Gómez Andrés, David, Díaz Manera, Jordi, Alejaldre, Aida, Pulido Valdeolivas, Irene, González Mera, Laura, Olivé i Plana, Montserrat, Vilchez, Juan José, López de Munain, Adolfo, Paradas, Carmen, Muelas, Nuria, Sánchez Montáñez, Ángel, Alonso Jimenez, Alicia, Gómez de la Banda, Marta, Dabaj, Ivana, Bonne, Gisèle, Munell Casadesús, Francina, Carlier, Robert Y, Quijano Roy, Susana

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Diabetes Protects from Prostate Cancer by Downregulating Androgen Receptor : New Insights from LNCaP Cells and PAC120 Mouse Model von Barbosa-Desongles, Anna, Hernández, Cristina, de Torres, Inés, Munell Casadesus, Francina, Poupon, Marie-France, Simó Canonge, Rafael, Martínez Selva, David, Universitat Autònoma de Barcelona

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no... von Kalko, Susana, Paco Mercader, Sonia, Jou, Cristina, Rodríguez, María Angeles, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidro (Ferrer Abizanda), Roig Quilis, Manuel, Munell Casadesús, Francina, Montoya, Julio, López Gallardo, Ester, Ruiz Pesini, Eduardo, Artuch Iriberri, Rafael, Montero Sánchez, Raquel, Torner Rubies, Ferran, Nascimento, Andrés, Ortez, Carlos Ignacio, Colomer Oferil, Jaume, Jiménez Mallebrera, Cecilia

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 von Blasco-Pérez, Laura, Costa-Roger, Mar, Leno Colorado, Jordi, Bernal, Sara, Alías, Laura, Codina Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José, Aller, Elena, Sotoca Fernández, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, E, Costa-Comellas, Laura, Munell Casadesus, Francina, Boronat, Susanna, Rojas-Garcia, Ricardo, Povedano, Mónica, Cusco, Ivon, Tizzano, Eduardo F, Universitat Autònoma de Barcelona

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 von Blasco-Pérez, L, Costa-Roger, M, Leno-Colorado, J, Bernal, Sara, Alias, L, Codina Solà, Marta, Martínez-Cruz, D, Castiglioni, C, Bertini, E, Travaglini, L, Millán, J.M, Aller, E, Sotoca Fernández, Javier, Juntas, R, Hoei-Hansen, C.E, Moreno-Escribano, A, Guillén-Navarro, E, Costa-Comellas, L, Munell Casadesus, Francina, Boronat, S, Rojas-García, R, Povedano, M, Cusco, Ivon, Tizzano, E.F, Universitat Autònoma de Barcelona

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Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency von Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A, Munell Casadesus, Francina, Nascimento, Andrés, Olivé i Plana, Montse, Quan, Joanne, Sardina, Maria Dolores, Martí, Ramon, Paradas, Carmen, Universitat Autònoma de Barcelona

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Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency von Domínguez-González, C, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A, Munell Casadesus, Francina, Nascimento, Andrés, Olive, Montse, Quan, Joanne, Sardina, Maria Dolores, Martí, Ramon A, Paradas, Carmen, Universitat Autònoma de Barcelona

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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy von Juan Mateu, Jonàs, Rodríguez, Maria José, Nascimento, Andrés, Jiménez Mallebrera, Cecilia, González Quereda, Lidia, Rivas, Eloy, Paradas, Carmen, Madruga, Marcos, Sánchez Ayaso, Pedro, Jou, Cristina, González Mera, Laura, Munell Casadesús, Francina, Roig Quilis, Manuel, Rabasa, Maria, Hernández Lain, Aurelio, Díaz Manera, Jordi, Gallardo, Eduard, Pascual Calvet, Jordi, Verdura, Edgard, Colomer Oferil, Jaume, Baiget Bastús, Montserrat, Olivé i Plana, Montserrat, Gallano, Pia

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Desenvolupament de noves estratègies terapèutiques per les distròfies musculars von Romero Duque, Penélope

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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics von Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean-Jacques, Munell Casadesus, Francina, Colobrán Oriol, Roger, Macaya Ruiz, Alfons, Estivill, Xavier, Ossowski, Stephan, Universitat Autònoma de Barcelona

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