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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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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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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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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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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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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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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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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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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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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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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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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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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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases von Yubero, Delia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernandez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Monica, Ortez, Carlos, Nascimento, Andres, Hoenicka, Janet, Palau, Francesc

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COVID-19 in children with neuromuscular disorders von Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura, García-Romero, Mar, Miranda-Herrero, María Concepción, Rúbies Olives, Júlia, García-Campos, Óscar, Martínez del Val, Elena, Martinez Garcia, Maria Josefa, Medina Martínez, Inmaculada, Cancho-Candela, Ramón, Fernandez-Garcia, Miguel A., Pascual-Pascual, Samuel Ignacio, Gómez-Andrés, David, Nascimento, Andres

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Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy von Codina, Anna, Roldán, Mònica, Natera-de Benito, Daniel, Ortez, Carlos, Planas, Robert, Matalonga, Leslie, Cuadras, Daniel, Carrera, Laura, Exposito, Jesica, Marquez, Jesus, Jimenez-Mallebrera, Cecilia, M Porta, Josep, Nascimento, Andres, Jou, Cristina

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Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases von Pijuan, Jordi, Cantarero, Lara, Natera-de Benito, Daniel, Altimir, Arola, Altisent-Huguet, Anna, Díaz-Osorio, Yaiza, Carrera-García, Laura, Expósito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum von Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Perez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martinez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificacion, O'Callaghan, Mar, Grinberg, Daniel, Bermejo-Sanchez, Eva, Balcells, Susanna

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