Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

بواسطة Boutoual, Rachid, Meseguer, Salvador, Villarroya, Magda, Martín-Hernández, Elena, Errami, Mohammed, Martín, Miguel A., Casado, Marta, Armengod, M.-Eugenia
الحاوية / القاعدة Sci Rep (2018)

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

بواسطة Vitoria, Isidro, Martín-Hernández, Elena, Peña-Quintana, Luis, Bueno, María, Quijada-Fraile, Pilar, Dalmau, Jaime, Molina-Marrero, Sofia, Pérez, Belén, Merinero, Begoña
الحاوية / القاعدة JIMD Rep (2015)

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

بواسطة Rivera, Henry, Martín-Hernández, Elena, Delmiro, Aitor, García-Silva, María Teresa, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquín, Martín, Miguel A, Martínez-Azorín, Francisco
منشور في 2013

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

بواسطة Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Bellusci, Marcello, Martínez de Aragón, Ana, Hernández-Sánchez, Laura, Carnicero-Rodríguez, Patricia, Martín-Hernández, Elena, Martínez-Azorín, Francisco
الحاوية / القاعدة Eur J Hum Genet (2019)

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

بواسطة Couce, María Luz, Sánchez-Pintos, Paula, Aldámiz-Echevarría, Luís, Vitoria, Isidro, Navas, Victor, Martín-Hernández, Elena, García-Volpe, Camila, Pintos, Guillem, Peña-Quintana, Luis, Hernández, Tomás, Gil, David, Sánchez-Valverde, Félix, Bueno, María, Roca, Iria, López-Ruzafa, Encarna, Díaz-Fernández, Carmen
الحاوية / القاعدة Medicine (Baltimore) (2019)

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

بواسطة 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
الحاوية / القاعدة Orphanet J Rare Dis (2014)

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

بواسطة Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
الحاوية / القاعدة Orphanet J Rare Dis (2018)

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

بواسطة Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
الحاوية / القاعدة J Clin Med (2019)

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

بواسطة Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O’Callaghan, Maria del Mar, del Soto, Alberto Pérez, del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar
الحاوية / القاعدة Orphanet J Rare Dis (2017)

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

بواسطة Domínguez-González, Cristina, Madruga-Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre-Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín-Hernández, Elena, Morealejo-Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, del Vayo, Concepcion Álvarez, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres-Torronteras, Javier, Jimenez-Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
الحاوية / القاعدة Ann Neurol (2019)

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

بواسطة McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
الحاوية / القاعدة Orphanet J Rare Dis (2018)

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

بواسطة Navarrete, Rosa, Leal, Fátima, Vega, Ana I., Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R., Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
الحاوية / القاعدة Eur J Hum Genet (2019)

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

بواسطة Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia
الحاوية / القاعدة Orphanet J Rare Dis (2014)

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

بواسطة Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
الحاوية / القاعدة Am J Hum Genet (2019)

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

بواسطة Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
الحاوية / القاعدة Ann Neurol (2017)