Search Results - "Planas‐Serra, Laura"

HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome by Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond

“…Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene,…”
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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases by Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora

“…Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome…”
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Accelerated biological aging in COVID-19 patients by Cao, Xue, Li, Wenjuan, Wang, Ting, Ran, Dongzhi, Davalos, Veronica, Planas-Serra, Laura, Pujol, Aurora, Esteller, Manel, Wang, Xiaolin, Yu, Huichuan

“…Chronological age is a risk factor for SARS-CoV-2 infection and severe COVID-19. Previous findings indicate that epigenetic age could be altered in viral…”
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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity by Planas-Serra, Laura, Launay, Nathalie, Goicoechea, Leire, Heron, Bénédicte, Jou, Cristina, Juliá-Palacios, Natalia, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, De La Torre, Carolina, Gelot, Antoinette, Marsal, Maria, Loza-Alvarez, Pablo, García-Cazorla, Àngels, Fatemi, Ali, Ferrer, Isidre, Portero-Otin, Manel, Area-Gómez, Estela, Pujol, Aurora

“…Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer,…”
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Epigenome-wide association study of COVID-19 severity with respiratory failure by Castro de Moura, Manuel, Davalos, Veronica, Planas-Serra, Laura, Alvarez-Errico, Damiana, Arribas, Carles, Ruiz, Montserrat, Aguilera-Albesa, Sergio, Troya, Jesús, Valencia-Ramos, Juan, Vélez-Santamaria, Valentina, Rodríguez-Palmero, Agustí, Villar-Garcia, Judit, Horcajada, Juan P., Albu, Sergiu, Casasnovas, Carlos, Rull, Anna, Reverte, Laia, Dietl, Beatriz, Dalmau, David, Arranz, Maria J., Llucià-Carol, Laia, Planas, Anna M., Pérez-Tur, Jordi, Fernandez-Cadenas, Israel, Villares, Paula, Tenorio, Jair, Colobran, Roger, Martin-Nalda, Andrea, Soler-Palacin, Pere, Vidal, Francesc, Pujol, Aurora, Esteller, Manel

“…Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19), exhibit a…”
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia by Launay, Nathalie, Ruiz, Montserrat, Planas-Serra, Laura, Verdura, Edgard, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Goicoechea, Leire, Guilera, Cristina, Casas, Josefina, Campelo, Felix, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Boespflug-Tanguy, Odile, Vazquez Cancela, Maria, Gutiérrez-Solana, Luis González, Casasnovas, Carlos, Area-Gomez, Estela, Pujol, Aurora

“…The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause…”
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Case Report: Benign Infantile Seizures Temporally Associated With COVID-19 by García-Howard, Marcos, Herranz-Aguirre, Mercedes, Moreno-Galarraga, Laura, Urretavizcaya-Martínez, María, Alegría-Echauri, Josune, Gorría-Redondo, Nerea, Planas-Serra, Laura, Schlüter, Agatha, Gut, Marta, Pujol, Aurora, Aguilera-Albesa, Sergio

“…Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild…”
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Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study by Davalos, Veronica, García-Prieto, Carlos A., Ferrer, Gerardo, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Planas-Serra, Laura, Jordan, Iolanda, Alegría, Iosune, Flores-Pérez, Patricia, Cantarín, Verónica, Fumadó, Victoria, Viadero, Maria Teresa, Rodrigo, Carlos, Méndez-Hernández, Maria, López-Granados, Eduardo, Colobran, Roger, Rivière, Jacques G., Soler-Palacín, Pere, Pujol, Aurora, Esteller, Manel

“…Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus…”
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Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain by Troya, Jesús, Bastard, Paul, Planas-Serra, Laura, Ryan, Pablo, Ruiz, Montse, de Carranza, María, Torres, Juan, Martínez, Amalia, Abel, Laurent, Casanova, Jean-Laurent, Pujol, Aurora

“…Background In a recent study, autoantibodies neutralizing type I interferons (IFNs) were present in at least 10% of cases of critical COVID-19 pneumonia. These…”
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Activating cannabinoid receptor 2 preserves axonal health through GSK-3[beta]/NRF2 axis in adrenoleukodystrophy by Parameswaran, Janani, Goicoechea, Leire, Planas-Serra, Laura, Pastor, Antoni, Ruiz, Montserrat, Calingasan, Noel Y, Guilera, Cristina

“…Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid…”
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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia by Quiroz, Vicente, Planas-Serra, Laura, Sveden, Abigail, Tam, Amy, Kim, Hyo-Min, Zubair, Umar, Resch, Dario, Saffari, Afshin, Danzi, Matt C, Zuchner, Stephan, Chopra, Maya, Schierbaum, Luca, Pujol, Aurora, Eklund, Erik A, Ebrahimi-Fakhari, Darius

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Expanding the clinical and genetic spectrum of PCYT2-related disorders by Vélez-Santamaría, Valentina, Verdura, Edgard, Macmurdo, Colleen, Planas-Serra, Laura, Schlüter, Agatha, Casas, Josefina, Martínez, Juan José, Casasnovas, Carlos, Si, Yue, Thompson, Stephanie S, Maroofian, Reza, Pujol, Aurora

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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy by Guasto, Alessandra, Dubail, Johanne, Aguilera-Albesa, Sergio, Paganini, Chiara, Vanhulle, Catherine, Haouari, Walid, Gorría-Redondo, Nerea, Aznal-Sainz, Elena, Boddaert, Nathalie, Planas-Serra, Laura, Schlüter, Agatha, Verdura, Edgard, Bruneel, Arnaud, Rossi, Antonio, Huber, Céline, Pujol, Aurora, Cormier-Daire, Valérie

“…Sulfated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan…”
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Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy by Parameswaran, Janani, Goicoechea, Leire, Planas-Serra, Laura, Pastor, Antoni, Ruiz, Montserrat, Calingasan, Noel Y., Guilera, Cristina, Aso, Ester, Boada, Jordi, Pamplona, Reinald, Portero-Otín, Manuel, de la Torre, Rafael, Ferrer, Isidre, Casasnovas, Carlos, Pujol, Aurora, Fourcade, Stéphane

“…Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid…”
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization by Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, Del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A, Gutiérrez-Solana, Luis G, López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora

“…Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular…”
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy by Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

“…Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated,…”
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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia by Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D’Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O’Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L.Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, Biondi, Andrea

“…Purpose PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual…”
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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome by García-Cazorla, Àngels, Verdura, Edgard, Juliá-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., Schlüter, Agatha, Urreizti, Roser, Tarnowski, Jessica M., Gavrilova, Ralitza H., Ruiz, Montserrat, Rodríguez-Palmero, Agustí, Fourcade, Stéphane, Cogné, Benjamin, Besnard, Thomas, Vincent, Marie, Bézieau, Stéphane, Folmes, Clifford D., Zimmermann, Michael T., Klee, Eric W., Pandey, Udai Bhan, Artuch, Rafael, Cousin, Margot A., Pujol, Aurora

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Bi-allelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia by Quiroz, Vicente, Planas-Serra, Laura, Sveden, Abigail, Tam, Amy, Kim, Hyo M, Zubair, Umar, Resch, Dario, Saffari, Afshin, Danzi, Matt C, Züchner, Stephan, Chopra, Maya, Schierbaum, Luca, Pujol, Aurora, Eklund, Erik A, Ebrahimi-Fakhari, Darius

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Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study by Davalos, Veronica, García-Prieto, Carlos A., Ferrer, Gerardo, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Planas-Serra, Laura, Jordan, Iolanda, Alegría, Iosune, Flores-Pérez, Patricia, Cantarín, Verónica, Fumadó, Victoria, Viadero, Maria Teresa, Rodrigo, Carlos, Méndez-Hernández, Maria, López-Granados, Eduardo, Colobran, Roger, Rivière, Jacques G., Soler-Palacín, Pere, Pujol, Aurora, Esteller, Manel

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