Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
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
Published in Scientific reports (01.10.2019)
Published in Scientific reports (01.10.2019)
Get full text
Journal Article
Common data elements for arthrogryposis multiplex congenita: An international framework
Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I P, Van Bosse, Harold, Benito, Daniel Natera-De, Hall, Judith G, Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan-Oliel, Noémi
Published in Developmental medicine and child neurology (16.03.2024)
Published in Developmental medicine and child neurology (16.03.2024)
Get full text
Journal Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
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
Published in Human mutation (01.04.2022)
Published in Human mutation (01.04.2022)
Get full text
Journal Article
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization
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
Published in Epilepsia (Copenhagen) (01.05.2020)
Published in Epilepsia (Copenhagen) (01.05.2020)
Get full text
Journal Article
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
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
Published in International journal of molecular sciences (16.04.2022)
Published in International journal of molecular sciences (16.04.2022)
Get full text
Journal Article
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
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
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
Get full text
Journal Article
Epilepsy in Duchenne and Becker muscular dystrophies
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
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
Get full text
Journal Article
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
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
Published in Annals of clinical and translational neurology (01.03.2023)
Published in Annals of clinical and translational neurology (01.03.2023)
Get full text
Journal Article
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 Epigenetic Dysregulation
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
Published in Biomedicines (10.06.2022)
Published in Biomedicines (10.06.2022)
Get full text
Journal Article
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional
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
Published in Developmental medicine and child neurology (06.04.2024)
Published in Developmental medicine and child neurology (06.04.2024)
Get full text
Journal Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins
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
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
Get full text
Journal Article
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1
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
Published in Nature communications (25.06.2024)
Published in Nature communications (25.06.2024)
Get full text
Journal Article
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
Yubero, Dèlia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernàndez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Mònica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc
Published in International journal of molecular sciences (20.04.2021)
Published in International journal of molecular sciences (20.04.2021)
Get full text
Journal Article
COVID-19 in children with neuromuscular disorders
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
Published in Journal of neurology (01.09.2021)
Published in Journal of neurology (01.09.2021)
Get full text
Journal Article
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
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
Published in International journal of molecular sciences (28.03.2023)
Published in International journal of molecular sciences (28.03.2023)
Get full text
Journal Article
Corrigendum to “Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen”[ Eur. J. Paediatr. Neurol. (2021) 92–101]
Carrera-García, Laura, Muchart, Jordi, Lazaro, Juan José, Expósito-Escudero, Jessica, Cuadras, Daniel, Medina, Julita, Bosch de Basea, Magda, Colomer, Jaume, Jimenez-Mallebrera, Cecilia, Ortez, Carlos, Benito, Daniel Natera-de, Nascimento, Andrés
Published in European journal of paediatric neurology (01.03.2022)
Published in European journal of paediatric neurology (01.03.2022)
Get full text
Journal Article
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
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
Published in Frontiers in neuroscience (31.01.2022)
Published in Frontiers in neuroscience (31.01.2022)
Get full text
Journal Article
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O'Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna
Published in Orphanet journal of rare diseases (10.02.2020)
Published in Orphanet journal of rare diseases (10.02.2020)
Get full text
Journal Article
Pathological Features in Paediatric Patients with TK2 Deficiency
Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Published in International journal of molecular sciences (01.10.2022)
Published in International journal of molecular sciences (01.10.2022)
Get full text
Journal Article
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
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
Published in Scientific reports (10.11.2020)
Published in Scientific reports (10.11.2020)
Get full text
Journal Article