Search Results - "Marti‐Sánchez, Laura"

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

“…Abstract Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid…”
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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

“…AIM To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology,…”
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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

“…To perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations. A multi-gene panel of…”
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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

“…Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes within the…”
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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

“…The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history…”
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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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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

“…Huntington’s disease (HD) is a hereditary neurodegenerative disorder of the basal ganglia for which disease-modifying treatments are not yet available…”
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Treatment of genetic defects of thiamine transport and metabolism by Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Martí-Sánchez, Laura, Rodriguez-Pombo, Pilar, Artuch, Rafael, Pérez-Dueñas, Belén

“…Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the…”
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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

“…To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. Two movement disorders experts rated…”
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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

“…ABSTRACT Background Pantothenate kinase‐associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The…”
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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

“…Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF…”
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I03 CPEB alteration and aberrant transcriptome-polyadenylation unveil a treatable vitamin B1 deficiency in huntington’s disease by 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

“…BackgroundAlthough promising gene-silencing therapies are being tested for Huntington’s disease (HD), no disease-modifying treatments are available. Thus,…”
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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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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

“…Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy,…”
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