Search Results - "Natera de Benito, Daniel"

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein by 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

“…TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported…”
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Common data elements for arthrogryposis multiplex congenita: An international framework by 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

“…Aim To facilitate multisite studies and international clinical research, this study aimed to identify consensus‐based, standardized common data elements (CDEs)…”
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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder by 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

“…A proper interaction between muscle‐derived collagen XXV and its motor neuron‐derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is…”
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Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization by 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

“…Objective To delineate the epileptic phenotype of LAMA2‐related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings,…”
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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts by 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

“…Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly…”
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CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings by 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

“…Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long‐term follow‐up of seven patients with…”
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Inferring disease course from differential exon usage in the wide titinopathy spectrum by 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

“…Objective Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with…”
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Epilepsy in Duchenne and Becker muscular dystrophies by 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

“…Objective Duchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent…”
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Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional by 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

“…Resumen Objetivo Para facilitar los estudios multicéntricos y la investigación clínica internacional, este estudio pretende identificar de forma consensuada…”
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Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international by 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

“…Résumé Objectif Afin de faciliter les études multisites et la recherche clinique d'envergure internationale, cette étude a pour but d'identifier des éléments…”
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Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants by 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

“…Objective Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and…”
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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 Epigenetic Dysregulation by 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

“…Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of…”
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Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional by 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 by 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

“…Pathogenic variants in have been associated with a wide spectrum of muscular conditions: the laminopathies. -related congenital muscular dystrophy is a…”
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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

“…SDS22 forms an inactive complex with nascent protein phosphatase PP1 and Inhibitor-3. SDS22:PP1:Inhibitor-3 is a substrate for the ATPase p97/VCP, which…”
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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases by 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

“…The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular…”
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COVID-19 in children with neuromuscular disorders by 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

“…Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is…”
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Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy by 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

“…Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in…”
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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] by 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

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Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases by 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

“…Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria…”
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