U-IMD: the first Unified European registry for inherited metabolic diseases

por Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, García-Cazorla, Ángels, Dionisi-Vici, Carlo, Kölker, Stefan
Publicado 2021

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

por Latzer, Itay Tokatly, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L., Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Bertoldi, Mariarita, Pearl, Phillip L.
Publicado 2023

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

por 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
Publicado 2023

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

por Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J., Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Publicado 2021

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

por 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
Publicado 2020

Galactokinase deficiency: lessons from the GalNet registry

por Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Publicado 2020

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

por 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
Publicado 2023