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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 6-jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC ORCID; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 2016 | A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities | Yubero, Delia; Montero, Raquel; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | 2019 | ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency | Vázquez-Fonseca, Luis; Schäefer, Jochen; Navas-Enamorado, Ignacio CSIC; Santos-Ocaña, Carlos CSIC ORCID ; Hernández-Camacho, Juan Diego; Guerra, Ignacio CSIC; Cascajo Almenara, M. V. CSIC ORCID; Sánchez-Cuesta, Ana CSIC ORCID; Horvath, Zoltan; Siendones, Emilio CSIC; Jou, Cristina; Casado, Mercedes; Gutierrez-Rios, Purificacion CSIC; Brea-Calvo, Gloria CSIC ORCID; López-Lluch, Guillermo CSIC ORCID CVN ; Fernández-Ayala, Daniel J. M.; Cortés-Rodríguez, Ana Belén CSIC ORCID; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y.; Dominguez-del-Toro, Eduardo; Francesco, Andrea Di; Aon, Miguel A.; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido CSIC ORCID | artículo |
| closedAccess | | 20-mar-2008 | Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes | Montero, Raquel; Sánchez-Alcázar, José Antonio CSIC ORCID ; Briones, Paz CSIC; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| closedAccess |  | 2-feb-2023 | BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening | Tangeraas, Trine; Constante, Juliana R; Backe, Paul Hoff; Oyarzábal, Alfonso CSIC ORCID; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, François G; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodríguez-Pombo, Pilar CSIC ORCID; Al-Sannaa, Nouriya; De Los Santos, Mariela; Muchart López, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Mørkrid, Lars; García-Cazorla, Angeles | artículo |
| openAccess |  | jul-2022 | Calorie restriction rescues mitochondrial dysfunction in Adck2-Deficient skeletal muscle | Hernández-Camacho, Juan Diego; Fernández-Ayala, Daniel J. M.; Vicente-García, Cristina CSIC; Navas-Enamorado, Ignacio CSIC; López-Lluch, Guillermo CSIC ORCID CVN ; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; Cabo, Rafael de; Carvajal, Jaime J. CSIC ORCID; Navas, Plácido CSIC ORCID | artículo |
| closedAccess |  | 2013 | cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn period | Palanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén CSIC ORCID; Ormazabal, Aida; Fowler, Brian; Artuch, Rafael | artículo |
| closedAccess |  | 2006 | Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation | Artuch, Rafael; Brea-Calvo, Gloria CSIC ORCID; Briones, Paz CSIC; Aracil, Asunción; Galván, Marta; Espinós, Carmen CSIC ORCID; Corral, Jordi; Volpini, Víctor; Ribes, Antonia; Andreu, Antoni L.; Palau Martínez, Francesc CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Navas, Plácido CSIC ORCID; Pineda, Mercé | artículo |
| openAccess |  | may-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina CSIC; Pérez-Jurado, Luis Alberto; Montoliu, Lluís CSIC ORCID ; Carracedo, Ángel; Millán, José María; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José A. CSIC; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés CSIC; Manguan-García, Cristina CSIC ORCID; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián CSIC; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de CSIC ORCID; Gougeard, Nadine CSIC ORCID; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC ORCID; Pérez-Jiménez, Eva CSIC ORCID; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID | artículo de revisión |
| closedAccess |  | 2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido CSIC ORCID; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita | artículo |
| closedAccess |  | 2013 | Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency | Tondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma CSIC; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC ; Espinós, Carmen CSIC ORCID; Pérez, Belén CSIC ORCID; Pérez-Dueñas, Belén; Artuch, Rafael | artículo |
| openAccess |  | 1-ene-2009 | Coenzyme Q deficiency triggers mitochondria degradation by mitophagy | Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz CSIC; Gómez Izquierdo, Lourdes; Cotán, David CSIC; Navas, Plácido CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID | artículo |
| closedAccess | | 2009 | Coenzyme Q10 deficiencies in neuromuscular diseases | Artuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Navas, Plácido CSIC ORCID | capítulo de libro |
| closedAccess |  | 3-dic-2008 | Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report | Montero, Raquel; Sánchez-Alcázar, José Antonio CSIC ORCID ; Gallardo, M. Esther CSIC ORCID; Bornstein, Belén CSIC; Rivera, Henry; Martín, Miguel A.; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| closedAccess |  | 2013 | Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes | Montero, Raquel; Briones, Paz CSIC; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
| openAccess |  | 2020 | Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples | Paredes-Fuentes, Abraham J.; Montero, Raquel; Codina, Anna; Jou, Cristina; Fernandez, Guerau; Maynou, Joan; Santos-Ocaña, Carlos CSIC ORCID ; Riera, Joan; Navas, Plácido CSIC ORCID; Drobnic, Franchek; Artuch, Rafael | artículo |
| closedAccess |  | 13-abr-2010 | Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up | Pineda, Mercé; Montero, Raquel; Martínez-Rubio, Dolores CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Navas, Plácido CSIC ORCID; Briones, Paz CSIC; Artuch, Rafael | artículo |
| closedAccess |  | 2021 | CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington¿s disease | Picó, Sara; Parras, Alberto; Santos-Galindo, María CSIC ORCID; Pose-Utrilla, Julia CSIC; Castro, Margarita; Fraga, Enrique; Hernández Hernández, Ivo; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí-Sánchez, Laura; Belloc, Eulàlia; García-Esparcia, Paula; Garrido Jurado, Juan José CSIC ORCID ; Ferrer, Isidro; Macías García, Daniel CSIC ORCID; Mir, Pablo CSIC ORCID; Artuch, Rafael; Pérez, Belén CSIC ORCID; Hernández, Félix; Navarro Medrano, Pilar CSIC ORCID; López-Sendón, José Luis; Iglesias, Teresa CSIC ORCID; Yang, Willian; Méndez, Raúl CSIC ORCID; Lucas, José Javier CSIC ORCID | artículo |
| closedAccess |  | 29-sep-2021 | CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s disease | Picó, Sara; Parras, Alberto; Santos-Galindo, María CSIC ORCID; Pose-Utrilla, Julia CSIC; Castro, Margarita; Fraga, Enrique; Hernández, Ivó H.; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí-Sánchez, Laura; Belloc, Eulàlia; García-Esparcia, Paula; Garrido, Juan J.; Ferrer, Isidro; Macías García, Daniel CSIC ORCID; Mir, Pablo CSIC ORCID; Artuch, Rafael; Pérez, Belén CSIC ORCID; Hernández, Félix; Navarro, Pilar; López-Sendón, José Luis; Iglesias, Teresa CSIC ORCID; Yang, X. William; Méndez, Raúl CSIC ORCID; Lucas, José Javier CSIC ORCID | artículo |
| openAccess |  | 15-mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, Irene; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ORCID ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
