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)
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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Natera-de Benito, Daniel, Pugliese, Alessia, Polavarapu, Kiran, Guergueltcheva, Velina, Tournev, Ivailo, Todorova, Albena, Afonso Ribeiro, Joana, Fernández-Mayoralas, Daniel M., Ortez, Carlos, Martorell, Loreto, Estévez-Arias, Berta, Matalonga, Leslie, Laurie, Steven, Jou, Cristina, Lau, Jarred, Thompson, Rachel, Shen, Xinming, Engel, Andrew G., Nascimento, Andres, Lochmüller, Hanns, Selcen, Duygu
Published in Pediatric neurology (01.08.2024)
Published in Pediatric neurology (01.08.2024)
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Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Estévez-Arias, Berta, Carrera-García, Laura, Nascimento, Andrés, Cantarero, Lara, Hoenicka, Janet, Palau, Francesc
Published in Journal of Translational Genetics and Genomics (2022)
Published in Journal of Translational Genetics and Genomics (2022)
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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Estévez-Arias, Berta, Matalonga, Leslie, Martorell, Loreto, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Hoenicka, Janet, Jou, Cristina, Palau, Francesc, Beltran, Sergi, Lochmüller, Hanns, Töpf, Ana, Nascimento, Andrés, Natera-de Benito, Daniel
Published in Journal of neuromuscular diseases (30.04.2024)
Published in Journal of neuromuscular diseases (30.04.2024)
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Inferring disease course from differential exon usage in the wide titinopathy spectrum
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
Published in Annals of clinical and translational neurology (28.08.2024)
Published in Annals of clinical and translational neurology (28.08.2024)
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Justel, Maria, Jou, Cristina, Sariego-Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera-Fernandez, Antonio, Gomez-Martin, Hilario, Codina, Anna, Dominguez-Carral, Jana, Muxart, Jordi, Hernández-Laín, Aurelio, Vila-Bedmar, Sara, Zulaica, Miren, Cancho-Candela, Ramon, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Peña-Valenceja, Alfonso, Marcos-Vadillo, Elena, Prieto-Matos, Pablo, Pascual-Pascual, Samuel Ignacio, López de Munain, Adolfo, Camacho, Ana, Estevez-Arias, Berta, Musokhranova, Uliana, Olivella, Mireia, Oyarzábal, Alfonso, Jimenez-Mallebrera, Cecilia, Domínguez-González, Cristina, Nascimento, Andrés, García-Cazorla, Àngels, Natera-de Benito, Daniel
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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