Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international von Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera‐De Benito, Daniel, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon‐Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan‐Oliel, Noémi

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Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional von Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera de Benito, Daniel, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon‐Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan‐Oliel, Noémi

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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein von Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia

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Common data elements for arthrogryposis multiplex congenita: An international framework von Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera de Benito, Daniel, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon‐Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan‐Oliel, Noémi

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder von Natera‐de Benito, Daniel, Jurgens, Julie A., Yeung, Alison, Zaharieva, Irina T., Manzur, Adnan, DiTroia, Stephanie P., Di Gioia, Silvio Alessandro, Pais, Lynn, Pini, Veronica, Barry, Brenda J., Chan, Wai‐Man, Elder, James E., Christodoulou, John, Hay, Eleanor, England, Eleina M., Munot, Pinki, Hunter, David G., Feng, Lucy, Ledoux, Danielle, O'Donnell‐Luria, Anne, Phadke, Rahul, Engle, Elizabeth C., Sarkozy, Anna, Muntoni, Francesco

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Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization von Natera‐de Benito, Daniel, Muchart, Jordi, Itzep, Debora, Ortez, Carlos, González‐Quereda, Lidia, Gallano, Pía, Ramirez, Alia, Aparicio, Javier, Domínguez‐Carral, Jana, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Pardo Cardozo, Nathalia, Cuadras, Daniel, Codina, Anna, Jou, Cristina, Jimenez‐Mallebrera, Cecilia, Palau, Francesc, Colomer, Jaume, Arzimanoglou, Alexis, Nascimento, Andrés, San Antonio‐Arce, Victoria

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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts von López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia

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Estado actual de los síndromes miasténicos congénitos von Bestué Cardiel, María, Natera de Benito, Daniel

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Traducción y validación al español del módulo neuromuscular de la escala Pediatric Quality of Life Inventory (PedsQL): evaluación de la calidad de vida autopercibida por niños de 5... von Girabent Farrés, Montserrat, Bagur Calafat, Caritat, Amor Barbosa, Marta, Natera de Benito, Daniel, Medina Rincón, Almudena, Fagoaga Mata, Joaquim

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CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings von Carrera‐García, Laura, Natera‐de Benito, Daniel, Dieterich, Klaus, Banda, Marta G. G., Felter, Adrien, Inarejos, Emili, Codina, Anna, Jou, Cristina, Roldan, Monica, Palau, Francesc, Hoenicka, Janet, Pijuan, Jordi, Ortez, Carlos, Expósito‐Escudero, Jessica, Durand, Chantal, Nugues, Frédérique, Jimenez‐Mallebrera, Cecilia, Colomer, Jaume, Carlier, Robert Y., Lochmüller, Hanns, Quijano‐Roy, Susana, Nascimento, Andres

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Epilepsy in Duchenne and Becker muscular dystrophies von Armijo Gómez, Jesus Alfonso, Fernandez‐Garcia, Miguel A., Camacho, Ana, Liz, Marlin, Ortez, Carlos, Lafuente‐Hidalgo, Miguel, Toledo Bravo‐de Laguna, Laura, Estévez‐Arias, Berta, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Domínguez‐Carral, Jana, Nascimento, Andres, Natera‐de Benito, Daniel

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Inferring disease course from differential exon usage in the wide titinopathy spectrum von Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie‐Bitach, Tania, Nampoothiri, Sheela, Ryan, Erin, Morrow, Michelle, Gorokhova, Svetlana, Chabrol, Brigitte, Sinisalo, Juha, Tolppanen, Heli, Tolva, Johanna, Munell, Francina, Camacho Soriano, Jessica, Sanchez Duran, Maria Angeles, Johari, Mridul, Tajsharghi, Homa, Hackman, Peter, Udd, Bjarne, Savarese, Marco

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Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants von Natera‐de Benito, Daniel, Olival, Jonathan, Garcia‐Cabau, Carla, Jou, Cristina, Roldan, Mònica, Codina, Anna, Expósito‐Escudero, Jessica, Batlle, Cristina, Carrera‐García, Laura, Ortez, Carlos, Salvatella, Xavier, Palau, Francesc, Nascimento, Andrés, Hoenicka, Janet

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An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epi... von Koehorst, Emma, Odria, Renato, Capó, Júlia, Núñez-Manchón, Judit, Arbex, Andrea, Almendrote, Miriam, Linares-Pardo, Ian, Natera-de Benito, Daniel, Saez, Verónica, Nascimento, Andrés, Ortez, Carlos, Rubio, Miguel Ángel, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Lucente, Giuseppe, Rodriguez-Palmero, Agustín, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela, Suelves, Mònica

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Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international von Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I P, Van Bosse, Harold, Natera de Benito, Daniel, Hall, Judith G, Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan-Oliel, Noémi

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Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional von Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I P, Van Bosse, Harold, Natera de Benito, Daniel, Hall, Judith G, Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan-Oliel, Noémi

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Neurofibromatosis de tipo 2 con inicio en la edad pediátrica: identificación de los primeros signos y síntomas von Hinojosa Mateo, Carmen María, Reche Sainz, Jose Alberto, Hernández Núñez, Almudena, Ramos López, María, Arpa Fernández, Ana, Natera de Benito, Daniel

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Cefalea en racimos en edad pediátrica: descripción de cuatro casos y revisión de la bibliografía von Alfaro Iznaola, Cristina María, Natera de Benito, Daniel, Rodríguez Díaz, Rocio, Táboas Pereira, María Andrea, Cuadrado Martín, Mercedes, Ballesteros García, María del Mar

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Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins von Martínez Olorón, Patricia, Alegría, Iosune, Cesar, Sergi, Del Olmo, Bernat, Martínez-Barrios, Estefanía, Carrera-García, Laura, Natera-de Benito, Daniel, Nascimento, Andrés, Campuzano, Oscar, Sarquella-Brugada, Georgia

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SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1 von 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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