Clinical presentation and proteomic signature of patients with TANGO2 mutations von Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

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Diagnosis and management of glutaric aciduria type I – revised recommendations von Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter

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The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview von Garcia-Cazorla, Àngels, Mochel, Fanny, Lamari, Foudil, Saudubray, Jean-Marie

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism von Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

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Betaine anhydrous in homocystinuria: results from the RoCH registry von Valayannopoulos, Vassili, Schiff, Manuel, Guffon, Nathalie, Nadjar, Yann, García-Cazorla, Angels, Martinez-Pardo Casanova, Mercedes, Cano, Aline, Couce, Maria L, Dalmau, Jaime, Peña-Quintana, Luis, Rigalleau, Vincent, Touati, Guy, Aldamiz-Echevarria, Luis, Cathebras, Pascal, Eyer, Didier, Brunet, Dominique, Damaj, Léna, Dobbelaere, Dries, Gay, Claire, Hiéronimus, Sylvie, Levrat, Virginie, Maillot, François

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U-IMD: the first Unified European registry for inherited metabolic diseases von Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Julia-Palacios, Natalia, Garcia-Cazorla, Angels, Dionisi-Vici, Carlo, Koelker, Stefan

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Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein von Díez, H., Cortès‐Saladelafont, E., Ormazábal, A., Marmiese, A. Fernández, Armstrong, J., Matalonga, Leslie, Bravo, Miren, Briones, Paz, Emperador, Sonia, Montoya, Julio, Artuch, Rafael, Giros, Marisa, Garcia‐Cazorla, Àngels

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Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells von Fernandes, Tiago G., Duarte, Sofia T., Ghazvini, Mehrnaz, Gaspar, Cláudia, Santos, Diana C., Porteira, Ana R., Rodrigues, Gonçalo M. C., Haupt, Simone, Rombo, Diogo M., Armstrong, Judith, Sebastião, Ana M., Gribnau, Joost, Garcia-Cazorla, Àngels, Brüstle, Oliver, Henrique, Domingos, Cabral, Joaquim M. S., Diogo, Maria Margarida

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Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes von Molero-Luis, Marta, Fernández-Ureña, Sergio, Jordán, Iolanda, Serrano, Mercedes, Ormazábal, Aida, Garcia-Cazorla, Àngels, Artuch, Rafael

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Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders von Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O'Callaghan, M Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D'Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels

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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome von Quijada-Fraile, Pilar, O'Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael

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Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy von Castells, Alba-Aina, Balada, Rafel, Tristan-Noguero, Alba, O'Callaghan, Mar, Cortes-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Angels, Armstrong, Judith, Alcantara, Soledad

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Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases von Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel, Pérez-Dueñas, Belén, Jordan, Iolanda, Cambra, Francisco J., Ortigoza-Escobar, Juan D., Muñoz-Almagro, Carmen, Garcia-Cazorla, Angels, Armangué, Thais, Artuch, Rafael

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TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment von Fons, Carmen, Rizzu, Patrizia, Garcia-Cazorla, Angels, Martorell, Loreto, Ormazabal, Aida, Artuch, Rafael, Campistol, Jaume, Fernandez-Alvarez, Emilio

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization von 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

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Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases von Trifunov, Selena, Paredes-Fuentes, Abraham J, Badosa, Carmen, Codina, Anna, Montoya, Julio, Ruiz-Pesini, Eduardo, Jou, Cristina, Garrabou, Glòria, Grau-Junyent, Josep M, Yubero, Dèlia, Montero, Raquel, Muchart, Jordi, Ortigoza-Escobar, Juan D, O’Callaghan, Maria M, Nascimento, Andrés, Català, Albert, Garcia-Cazorla, Àngels, Jimenez-Mallebrera, Cecilia, Artuch, Rafael

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Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders von Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O'Callaghan, M Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D'Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels

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GRIN database: A unified and manually curated repertoire of GRIN variants von García‐Recio, Adrián, Santos‐Gómez, Ana, Soto, David, Julia‐Palacios, Natalia, García‐Cazorla, Àngels, Altafaj, Xavier, Olivella, Mireia

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New variants expand the neurological phenotype of COQ7 deficiency von Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos

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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity von 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

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