Response to Mortimer et al. “Clinical and molecular profiling in GNAO1 permits phenotype–genotype correlation” von Lasa‐Aranzasti, Amaia, Solis, Gonzalo P., Katanaev, Vladimir L., Pérez‐Dueñas, Belén

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Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies von Marcé‐Grau, Anna, Martí‐Sánchez, Laura, Baide‐Mairena, Heidy, Ortigoza‐Escobar, Juan D., Pérez‐Dueñas, Belén

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The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders von Pérez‐Dueñas, Belén, Gorman, Kathleen, Marcé‐Grau, Anna, Ortigoza‐Escobar, Juan D., Macaya, Alfons, Danti, Federica R., Barwick, Katy, Papandreou, Apostolos, Ng, Joanne, Meyer, Esther, Mohammad, Shekeeb S., Smith, Martin, Muntoni, Francesco, Munot, Pinki, Uusimaa, Johanna, Vieira, Päivi, Sheridan, Eammon, Guerrini, Renzo, Cobben, Jan, Yilmaz, Sanem, De Grandis, Elisa, Dale, Russell C., Pons, Roser, Peall, Kathryn J., Leuzzi, Vincenzo, Kurian, Manju A.

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function von Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François‐Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie‐Christine, Oppermann, Ilena, Pérez‐Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomas Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

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Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation von Lasa‐Aranzasti, Amaia, Larasati, Yonika A., Silva Cardoso, Juliana, Solis, Gonzalo P., Koval, Alexey, Cazurro‐Gutiérrez, Ana, Ortigoza‐Escobar, Juan Dario, Miranda, Maria Concepción, De la Casa‐Fages, Beatriz, Moreno‐Galdó, Antonio, Tizzano, Eduardo F., Gómez‐Andrés, David, Verdura, Edgard, Katanaev, Vladimir L., Pérez‐Dueñas, Belén, Cancho Candela, Ramón, Martinez, Jorge Pantoja, Cáceres‐Marzal, Cristina, Martí Carrera, Itxaso, Duat‐Rodriguez, Ana, Camacho, Ana

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia von Ng, Joanne, Cortès‐Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García‐Cazorla, Àngels, Grozeva, Detelina, Raymond, F. Lucy, Pérez‐Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther, Kurian, Manju A.

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Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations von Casas‐Alba, Dídac, Martínez‐Monseny, Antonio, Pino‐Ramírez, Rosa M., Alsina, Laia, Castejón, Esperanza, Navarro‐Vilarrubí, Sergi, Pérez‐Dueñas, Belén, Serrano, Mercedes, Palau, Francesc, García‐Alix, Alfredo

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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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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors von Ortigoza‐Escobar, Juan Darío, Alfadhel, Majid, Molero‐Luis, Marta, Darin, Niklas, Spiegel, Ronen, de Coo, Irenaeus F., Gerards, Mike, Taylor, Robert W., Artuch, Rafael, Nashabat, Marwan, Rodríguez‐Pombo, Pilar, Tabarki, Brahim, Pérez‐Dueñas, Belén, Distelmaier, Felix, Hahn, Andreas, Morava, Eva, Banka, Siddharth, Debs, Rabab, Fraser, Jamie L., Isohanni, Pirjo, Lähdesmäki, Tuire, Livingston, John, Nadjar, Yann, Schuler, Elisabeth, Uusimaa, Johanna, Vanderver, Adeline, Friedman, Jennifer R., Zimbric, Michael R., McFarland, Robert, Santra, Saikat, Wassmer, Evangeline, Martí‐Sanchez, Laura, Darling, Alejandra

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Early recognition of SGCE‐myoclonus–dystonia in children von Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, Pérez‐Dueñas, Belén

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ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene von Cazurro-Gutiérrez, Ana, Marcé-Grau, Anna, Correa-Vela, Marta, Salazar, Ainara, Vanegas, María I., Macaya, Alfons, Bayés, Àlex, Pérez-Dueñas, Belén

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Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants von Martorell, Loreto, Macaya, Alfons, Pérez‐Dueñas, Belén, Ortigoza‐Escobar, Juan Darío

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Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency von Serrano, Mercedes, Rebollo, Mónica, Depienne, Christel, Rastetter, Agnès, Fernández-Álvarez, Emilio, Muchart, Jordi, Martorell, Loreto, Artuch, Rafael, Obeso, José A., Pérez-Dueñas, Belén

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Genetic diagnosis of basal ganglia disease in childhood von Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén

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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect von Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes

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Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders von Molero‐Luis, Marta, Serrano, Mercedes, Ormazábal, Aida, Pérez‐Dueñas, Belén, García‐Cazorla, Àngels, Pons, Roser, Artuch, Rafael, Amartino, Hernan, Arrabal, Luisa, Campistol, Jaume, Casado, Mercedes, Castro, Pedro Castro, Cormand, Bru, Dinopoulos, Argirios, Domingo, Rosario, Duarte, Sofia T, Fernández‐Álvarez, Emilio, Desviat, Lourdes R, Hegde, Anaita, López‐Laso, Eduardo, Montero, Raquel, Ortez, Carlos, Pérez, Belén, Pineda, Mercé, Sierra, Cristina, Szlago, Marina, Schenone, Andrea B., Ruiz, Ángeles, Sequeira, Sílvia, Tondo, Mireia, Yapici, Zuhal, Iniesta, Raquel

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Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene von Pérez-Dueñas, Belén, Toma, Claudio, Ormazábal, Aida, Muchart, Jordi, Sanmartí, Francesc, Bombau, Georgina, Serrano, Mercedes, García-Cazorla, Angels, Cormand, Bru, Artuch, Rafael

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Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders von De Grandis, Elisa, Serrano, Mercedes, Pérez-Dueñas, Belén, Ormazábal, Aida, Montero, Raquel, Veneselli, Edvige, Pineda, Mercè, González, Verónica, Sanmartí, Francesc, Fons, Carmen, Sans, Anna, Cormand, Bru, Puelles, Luis, Alonso, Antonia, Campistol, Jaime, Artuch, Rafael, García-Cazorla, Angels

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene von Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén

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