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

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Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features by Nou‐Fontanet, Laia, Martí‐Sánchez, Laura, Martorell, Loreto, Casas, Jesús, Ortigoza‐Escobar, Juan Darío

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Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency by Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueéas, Belén, Gil-Campos, Mercedes

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Genetic diagnosis of basal ganglia disease in childhood by 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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Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood by Baide-Mairena, Heidy, Gaudó, Paula, Marti-Sánchez, Laura, Emperador, Sonia, Sánchez-Montanez, Angel, Alonso-Luengo, Olga, Correa, Marta, Grau, Anna Marcè, Ortigoza-Escobar, Juan Darío, Artuch, Rafael, Vázquez, Elida, Del Toro, Mireia, Garrido-Pérez, Nuria, Ruiz-Pesini, Eduardo, Montoya, Julio, Bayona-Bafaluy, María Pilar, Pérez-Dueñas, Belén

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene by 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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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors by 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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CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease by Picó, Sara, Parras, Alberto, Santos-Galindo, María, Pose-Utrilla, Julia, Castro, Margarita, Fraga, Enrique, Hernández, Ivó H, Elorza, Ainara, Anta, Héctor, Wang, Nan, Martí-Sánchez, Laura, Belloc, Eulàlia, Garcia-Esparcia, Paula, Garrido, Juan J, Ferrer, Isidro, Macías-García, Daniel, Mir, Pablo, Artuch, Rafael, Pérez, Belén, Hernández, Félix, Navarro, Pilar, López-Sendón, José Luis, Iglesias, Teresa, Yang, X William, Méndez, Raúl, Lucas, José J

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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome by Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, Pérez-Dueñas, Belén

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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study by Darling, Alejandra, Tello, Cristina, Martí, María Josep, Garrido, Cristina, Aguilera‐Albesa, Sergio, Tomás Vila, Miguel, Gastón, Itziar, Madruga, Marcos, González Gutiérrez, Luis, Ramos Lizana, Julio, Pujol, Montserrat, Gavilán Iglesias, Tania, Tustin, Kylee, Lin, Jean Pierre, Zorzi, Giovanna, Nardocci, Nardo, Martorell, Loreto, Lorenzo Sanz, Gustavo, Gutiérrez, Fuencisla, García, Pedro J., Vela, Lidia, Hernández Lahoz, Carlos, Ortigoza Escobar, Juan Darío, Martí Sánchez, Laura, Moreira, Fradique, Coelho, Miguel, Correia Guedes, Leonor, Castro Caldas, Ana, Ferreira, Joaquim, Pires, Paula, Costa, Cristina, Rego, Paulo, Magalhães, Marina, Stamelou, María, Cuadras Pallejà, Daniel, Rodríguez‐Blazquez, Carmen, Martínez‐Martín, Pablo, Lupo, Vincenzo, Stefanis, Leonidas, Pons, Roser, Espinós, Carmen, Temudo, Teresa, Pérez Dueñas, Belén

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Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins by Batllori, Marta, Casado, Mercedes, Sierra, Cristina, Salgado, Maria Del Carmen, Marti-Sanchez, Laura, Maynou, Joan, Fernandez, Guerau, Garcia-Cazorla, Angels, Ormazabal, Aida, Molero-Luis, Marta, Artuch, Rafael

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Targeted next generation sequencing in patients with infantile bilateral striatal necrosis by Ortigoza-Escobar, Juan Dario, Marti-Sanchez, Laura, Molero-Luis, Marta, Aviles, Carles, Baide, Heidy, Muchart, Jordi, Rebollo, Monica, Crow, Yannick J, Cabrera-Lopez, J.C, Madruga-Garrido, Marcos, Alonso-Luengo, Olga, Quijada-Fraile, Pilar, Martin-Hernandez, Elena, Garcia-Silva, Maria Teresa, Cerisola, Alfredo, Velazquez-Fragua, Ramon, Schuler, Elisabeth, Lopez-Laso, Eduardo, Gutierrez Solana, L.G

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Area strain from 3D speckle-tracking echocardiography as an independent predictor of early symptoms or ventricular dysfunction in asymptomatic severe mitral regurgitation with pres... by Casas-Rojo, Eduardo, Fernandez-Golfin, Covadonga, Moya-Mur, Jose Luis, Gonzalez-Gomez, Ariana, Garcia-Martin, Ana, Moran-Fernandez, Laura, Rodriguez-Munoz, Daniel, Jimenez-Nacher, Jose Julio, Marti Sanchez, David, Zamorano Gomez, Jose Luis

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Mock Juror Perceptions of Child Witnesses on the Autism Spectrum: The Impact of Providing Diagnostic Labels and Information About Autism by Crane, Laura, Wilcock, Rachel, Maras, Katie L., Chui, Wing, Marti-Sanchez, Carmen, Henry, Lucy A.

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