Publicacions
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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 cites: 6
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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 cites: 17
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Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 20
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Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.
Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus
ANTIOXIDANTS . 9(11): . Nº de cites: 7
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Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de cites: 31
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Murillo-Cuesta S, Artuch-Iriberri R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M and Varela-Nieto I.
The Value of Mouse Models of Rare Diseases: A Spanish Experience.
Frontiers in Genetics . 11: 583932-583932. Nº de cites: 14
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Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples
ANTIOXIDANTS . 9(10): . Nº de cites: 13
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 13