Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
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
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
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CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease
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
Published in Science translational medicine (29.09.2021)
Published in Science translational medicine (29.09.2021)
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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
Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueéas, Belén, Gil-Campos, Mercedes
Published in Orphanet journal of rare diseases (05.09.2022)
Published in Orphanet journal of rare diseases (05.09.2022)
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Journal Article
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
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
Published in Parkinsonism & related disorders (01.11.2020)
Published in Parkinsonism & related disorders (01.11.2020)
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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
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
Published in Movement disorders (01.11.2017)
Published in Movement disorders (01.11.2017)
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Journal Article
Genetic diagnosis of basal ganglia disease in childhood
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
Published in Developmental medicine and child neurology (01.06.2022)
Published in Developmental medicine and child neurology (01.06.2022)
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Journal Article
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
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
Published in Molecular genetics and metabolism (01.03.2019)
Published in Molecular genetics and metabolism (01.03.2019)
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Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
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
Published in Fluids and barriers of the CNS (14.11.2019)
Published in Fluids and barriers of the CNS (14.11.2019)
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Journal Article
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
Marcé‐Grau, Anna, Martí‐Sánchez, Laura, Baide‐Mairena, Heidy, Ortigoza‐Escobar, Juan D., Pérez‐Dueñas, Belén
Published in Journal of inherited metabolic disease (01.07.2019)
Published in Journal of inherited metabolic disease (01.07.2019)
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Journal Article
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features
Nou-Fontanet, Laia, Martí-Sánchez, Laura, Martorell, Loreto, Casas, Jesús, Ortigoza-Escobar, Juan Darío
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2024)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2024)
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Targeted next generation sequencing in patients with infantile bilateral striatal necrosis
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
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Treatment of genetic defects of thiamine transport and metabolism
Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Martí-Sánchez, Laura, Rodriguez-Pombo, Pilar, Artuch, Rafael, Pérez-Dueñas, Belén
Published in Expert review of neurotherapeutics (02.07.2016)
Published in Expert review of neurotherapeutics (02.07.2016)
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
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
Published in Annals of neurology (01.09.2017)
Published in Annals of neurology (01.09.2017)
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Journal Article
I03 CPEB alteration and aberrant transcriptome-polyadenylation unveil a treatable vitamin B1 deficiency in huntington’s disease
Pico, 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, William Yang, X, Méndez, Raúl, Lucas, José J
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2021)
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