Publicaciones
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Mirra S, Arroyo RG, Domènech EB, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya-Gombau F and Marfany G.
CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina
NEUROBIOLOGY OF DISEASE . 156: 105405-105405. Nº de citas: 12
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Esparza-Moltó PB, Romero-Carramiñana I, Núñez de Arenas C, Pereira MP, Blanco N, Pardo B, Bates GR, Sánchez-Castillo C, Artuch-Iriberri R, Murphy MP, Esteban JA and Cuezva JM.
Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition
Plos Biology . 19(5): . Nº de citas: 23
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Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Nº de citas: 17
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Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Nº de citas: 28
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Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.
An international classification of inherited metabolic disorders (ICIMD)
JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 87
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Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Alfons Macaya and Pérez-Dueñas B.
Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene
JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de citas: 24
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Tristan-Noguero A, Borràs E, Molero M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch-Iriberri R, Sabidó E and Garcia-Cazorla A.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
MOVEMENT DISORDERS . 36(3): 690-703. Nº de citas: 5
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Marin Soria, Lose Luis, Lopez Galera, Rosa Ma, Argudo Ramirez, Ana, Gonzalez de Aledo, Jose Manuel, Pajares Garcia, Sonia, Sastre, Aleix Navarro, Hernandez Perez, Jose Ma, Ribes Rubio, Antonia, Gort Mas, Laura, Garcia Villoria, Judit, Gartner Tizano, Silvia, Rovira Amigo, Sandra, Asensio de la Cruz, Oscar, Garcia Gonzalez, Miguel, Cols M, Costa-Colomer J, Badenas Orquin, Celia, Fernandez, Diego Yeste, Campos Martorell, Ariadna, Clemente Leon, Maria, Mogas Vinals, Eduardo, Ferrer Costa, Roser, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Garcia Cazorla, Angeles, Beneitez Pastor, David, Ortuno Cabrero, Ana, Blanco Alvarez, Adoracion, TazIon Vega, Barbara, Roue, Gael, Velasco Puyo, Pablo, Murciano Carrillo, Thais, Murillo Sanjuan, Laura, de Heredia Rubio, Cristina Diaz, Manu Pereira, Ma del Mar, Vives Corrons, Josep Lluis, Arranz Amo, Jose Antonio, Carnicer Caceres, Clara, del Toro Riera, Mireia, Ormazabal Herrero, Aida, Artuch-Iriberri R, Garcia-Volpe, Camila, Mercedes de los Santos, Mariela, Sierra March, Cristina, Ruiz Hernandez, Carlos Jose, Meavilla Olivas, Silvia Ma, Martin Nalda, Andrea, Riviere, Jacques G., Parra Martinez, Alba, Soler Palacin, Pere, Martinez Gallo, Monica, Colobran, Roger, Casals Senent, Teresa, Armelles Sebastia, Merce, Vidal Benede, Ma Jose, Checa, Mireira Jane, Fernandez Bordon, Rosa Ma, Asso Ministral, Laia, Prats Viedma, Blanca and Cabezas Pena, Carmen.
50 years of the Neonatal Screening Program in Catalonia
Revista espanola de salud publica . 94: .
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Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.
[50 years of the Neonatal Screening Program in Catalonia.]
Revista espanola de salud publica . 94: 1-15.
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Alvarez-Guaita A, Blanco-Muñoz P, Meneses-Salas E, Wahba M, Pollock AH, Jose J, Casado-Rio M, Bosch M, Artuch-Iriberri R, Gaus K, Lu A, Pol A, Tebar F, Moss SE, Grewal T, Enrich C and Rentero C.
Annexin A6 Is Critical to Maintain Glucose Homeostasis and Survival During Liver Regeneration in Mice
HEPATOLOGY . 72(6): 2149-2164. Nº de citas: 13