Publicaciones
2024
Martinez-Marin, RJ, Reyes-Leiva, D, Nascimento, A, Muelas, N, Dominguez-González, C, Paradas, C, Olivé, M, García-Romero, M, Pascual-Pascual, SI, Grau, JM, Barba-Romero, MA, Gomez-Caravaca, MT, de las Heras, J, Casquero, P, Mendoza, MD, de León, JC, Gutierrez, A, Morís, G, Blanco-Lago, R, Ramos-Fransi, A, Pintós, G, García-Antelo, MJ, Rabasa, M, Morgado, Y, Usón, M, Miralles, FJ, Bárcena-Llona, JE, Gómez-Belda, AB, Pedraza-Hueso, MI, Hortelano, M, Colomé, A, Garcia-Martin, G, de Munain, AL, Jericó, I, Galán-Dávila, L, Pardo, J, Salgueiro-Origlia, G, Alonso-Pérez, J, Pla-Junca, F, Schiava, M, Segovia-Simón, S, Díaz-Manera, J (2024).
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
NEUROMUSCULAR DISORDERS. Article. 34:1-8.
[doi:10.1016/j.nmd.2023.10.001]
2023
Guerrero-Molina, MP, Bernabeu-Sanz, A, Ramos-González, A, Morales-Conejo, M, Delmiro, A, Domínguez-González, C, Arenas, J, Martín, MA, de la Aleja, JG (2023).
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
Neuroradiology. Article. 66(3):389-398.
[doi:10.1007/s00234-023-03263-1]
Serrano-Gonzalo, I, de Frutos, LL, Lahoz-Gil, C, Delgado-Mateos, F, Fernández-Galán, M, Morales-Conejo, M, Calle-Gordo, M, Ibarretxe-Gerediaga, D, Madinaveitia-Ochoa, A, Albarracin-Arraigosa, A, Balanzat-Muñoz, J, Correcher-Medina, P, García-Frade, L, Hernández-Rivas, J, Labbadia, F, López-Dupla, J, Lozano-Almela, M, Mora-Casterá, E, Noya-Pereira, M, Ruíz-Guinaldo, M, Tormo-Díaz, M, Vitoria-Miñana, I, Arévalo-Vargas, I, Andrade-Campos, M, Giraldo, P (2023).
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project
ORPHANET JOURNAL OF RARE DISEASES. Article. 18(1).
[doi:10.1186/s13023-023-02939-4]
Baden, P, Perez, MJ, Raji, H, Bertoli, F, Kalb, S, Illescas, M, Spanos, F, Giuliano, C, Calogero, AM, Oldrati, M, Hebestreit, H, Cappelletti, G, Brockmann, K, Gasser, T, Schapira, AH, Ugalde, C, Deleidi, M (2023).
Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism
NATURE COMMUNICATIONS. Article. 14(1).
[doi:10.1038/s41467-023-37454-4]
Esteller, D, Schiava, M, Villar-Quiles, RN, Dibowski, B, Venturelli, N, Laforet, P, Alonso-Pérez, J, Olive, M, Domínguez-González, C, Paradas, C, Vélez, B, Kostera-Pruszczyk, A, Kierdaszuk, B, Rodolico, C, Claeys, K, Pál, E, Malfatti, E, Souvannanorath, S, Alonso-Jiménez, A, de Ridder, W, De Smet, E, Papadimas, G, Papadopoulos, C, Xirou, S, Luo, S, Muelas, N, Vilchez, JJ, Ramos-Fransi, A, Monforte, M, Tasca, G, Udd, B, Palmio, J, Sri, S, Krause, S, Schöser, B, Fernández-Torrón, R, de Munain, AL, Pegoraro, E, Farrugia, ME, Vorgerd, M, Manousakis, G, Chanson, JB, Nadaj-Pakleza, A, Cetin, H, Badrising, U, Warman-Chardon, J, Bevilacqua, J, Earle, N, Campero, M, Díaz, J, Ikenaga, C, Lloyd, TE, Nishino, I, Nishimori, Y, Saito, Y, Oya, Y, Takahashi, Y, Nishikawa, A, Sasaki, R, Marini-Bettolo, C, Guglieri, M, Straub, V, Stojkovic, T, Carlier, RY, Díaz-Manera, J (2023).
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
JOURNAL OF NEUROLOGY. Article. 270(12):5849-5865.
[doi:10.1007/s00415-023-11862-4]
Bermejo-Guerrero, L, Fernández-de la Hoz, CPD, González-Quereda, L, Segarra-Casas, A, Nedkova, V, Gallano, P, Martín-Jiménez, P, Hernández-Laín, A, Olivé, M, Arteche-López, A, Domínguez-González, C (2023).
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
NEUROMUSCULAR DISORDERS. Article. 33(12):983-987.
[doi:10.1016/j.nmd.2023.10.016]
de la Hoz, CPD, Lupo, V, Bermejo-Guerrero, L, Martín-Jiménez, P, Hernández-Laín, A, Olive, M, Gallardo, E, Esteban-Pérez, J, Espinós, C, Domínguez-González, C (2023).
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
JOURNAL OF NEUROLOGY. Article. 271(2):986-994.
[doi:10.1007/s00415-023-12039-9]
Justel, M, Jou, C, Sariego-Jamardo, A, Juliá-Palacios, NA, Ortez, C, Poch, ML, Hedrera-Fernandez, A, Gomez-Martin, H, Codina, A, Dominguez-Carral, J, Muxart, J, Hernández-Laín, A, Vila-Bedmar, S, Zulaica, M, Cancho-Candela, R, Castro, MD, de la Osa-langreo, A, Peña-Valenceja, A, Marcos-Vadillo, E, Prieto-Matos, P, Pascual-Pascual, SI, de Munain, AL, Camacho, A, Estevez-Arias, B, Musokhranova, U, Olivella, M, Oyarzábal, A, Jimenez-Mallebrera, C, Domínguez-González, C, Nascimento, A, García-Cazorla, A, Natera-de Benito, D (2023).
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS. Article. 60(10):965-973.
[doi:10.1136/jmg-2022-109132]
Poveda, J, González-Lafuente, L, Vázquez-Sánchez, S, Mercado-García, E, Rodríguez-Sánchez, E, García-Consuegra, I, Sanz, AB, Segura, J, Fernández-Velasco, M, Liaño, F, Ruilope, LM, Ruiz-Hurtado, G (2023).
Targeting the TWEAK-Fn14 pathway prevents dysfunction in cardiac calcium handling after acute kidney injury
JOURNAL OF PATHOLOGY. Article. 261(4):427-441.
[doi:10.1002/path.6200]
Serrano-Lorenzo, P, Gobelli, D, Garrido-Moraga, R, Esteban-Amo, MJ, López-López, JR, Orduña, A, de la Fuente, MA, Martín, MA, Simarro, M (2023).
Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
PLOS ONE. Article. 18(9).
[doi:10.1371/journal.pone.0291442]
de Bruyn, A, Montagnese, F, Holm-Yildiz, S, Poulsen, NS, Stojkovic, T, Behin, A, Palmio, J, Jokela, M, De Bleecker, JL, de Visser, M, van der Kooi, AJ, ten Dam, L, González, CD, Maggi, L, Gallone, A, Kostera-Pruszczyk, A, Macias, A, Lusakowska, A, Nedkova, V, Olive, M, Alvarez-Velasco, R, Wanschitz, J, Paradas, C, Mavillard, F, Querin, G, Fernández-Eulate, G, Quinlivan, R, Walter, MC, Depuydt, CE, Udd, B, Vissing, J, Schoser, B, Claeys, KG (2023).
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
BRAIN. Article. 146(9):3800-3815.
[doi:10.1093/brain/awad088]
Cerrada, V, García-Consuegra, I, Arenas, J, Gallardo, ME (2023).
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene
Biomedicines. Article. 11(9).
[doi:10.3390/biomedicines11092434]
Gobelli, D, Serrano-Lorenzo, P, Esteban-Amo, MJ, Serna, J, Perez-Garcia, M, Orduña, A, Jourdain, AA, Martín-Casanueva, MA, de la Fuente, MA, Simarro, M (2023).
The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
iScience. Article. 26(8).
[doi:10.1016/j.isci.2023.107473]
Rodríguez-García, ME, Cotrina-Vinagre, FJ, Sánchez-Calvin, MT, de Aragón, AM, de Las Heras, RS, Dinman, JD, de Vries, BBA, Sá, MJN, Quijada-Fraile, P, Martínez-Azorín, F (2023).
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
JOURNAL OF HUMAN GENETICS. Article. 68(8):543-550.
[doi:10.1038/s10038-023-01150-4]
de la Torre, MF, Fiuza-Luces, C, Laine-Menéndez, S, Delmiro, A, Arenas, J, Martin, MA, Lucia, A, Morán, M (2023).
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
International Journal Of Molecular Sciences. Article. 24(13).
[doi:10.3390/ijms241310973]
González-Quintana, A, Garrido-Moraga, R, Palencia-Pérez, SI, Hernández-Martín, A, Sánchez-Munárriz, J, Lezana-Rosales, JM, Quesada-Espinosa, JF, Martín, MA, Arteche-López, A (2023).
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma
Genes. Article. 14(7).
[doi:10.3390/genes14071494]
González-Moreno, L, Santamaría-Cano, A, Paradela, A, Martínez-Chantar, ML, Martín, MA, Pérez-Carreras, M, García-Picazo, A, Vázquez, J, Calvo, E, González-Aseguinolaza, G, Saheki, T, del Arco, A, Satrústegui, J, Contreras, L (2023).
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Molecular genetics and metabolism reports. Article. 35.
[doi:10.1016/j.ymgmr.2023.100967]
Muñoz-García, MI, Guerrero-Molina, MP, de Fuenmayor-Fernández de la Hoz CP, Bermejo-Guerrero, L, Arteche-López, A, Hernández-Laín, A, Martín, MA, Domínguez-González, C (2023).
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Journal of Clinical Medicine. Article. 12(9).
[doi:10.3390/jcm12093308]
Guerrero-Molina, MP, Domínguez-González, C, de la Aleja, JG (2023).
Reply: High-dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes without a beneficial clinical or cerebral tissue effect
EUROPEAN JOURNAL OF NEUROLOGY. Letter. 30(4):1158-1159.
[doi:10.1111/ene.15683]
Bernal-Tirapo, J, Bayo Jiménez MT, Yuste-García, P, Cordova, I, Peñas, A, García-Borda, FJ, Quintela, C, Prieto, I, Sánchez-Ramos, C, Ferrero-Herrero, E, Monsalve, M (2023).
Evaluation of Mitochondrial Function in Blood Samples Shows Distinct Patterns in Subjects with Thyroid Carcinoma from Those with Hyperplasia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 24(7).
[doi:10.3390/ijms24076453]
López-López, D, Roldán, G, Fernández-Rueda, JL, Bostelmann, G, Carmona, R, Aquino, V, Perez-Florido, J, Ortuño, F, Pita, G, Núñez-Torres, R, González-Neira, A, Peña-Chilet, M, Dopazo, J (2023).
A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics. Article. 17(1).
[doi:10.1186/s40246-023-00466-8]
Errazquin, R, Carrasco, E, Del Marro, S, Suñol, A, Peral, J, Ortiz, J, Rubio, JC, Segrelles, C, Dueñas, M, Garrido-Aranda, A, Alvarez, M, Belendez, C, Balmaña, J, Garcia-Escudero, R (2023).
Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma
Cancers. Article. 15(6).
[doi:10.3390/cancers15061871]
Münch, J, Prasuhn, J, Laugwitz, L, Fung, CW, Chung, BHY, Bellusci, M, Mayatepek, E, Klee, D, Distelmaier, F (2023).
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders
Antioxidants. Review. 12(3).
[doi:10.3390/antiox12030718]
Sonne, A, Peverelli, L, Hernandez-Lain, A, Dominguez-Gonzalez, C, Andersen, JL, Milone, M, Beggs, AH, Ochala, J (2023).
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY. Article. 324(3):769-776.
[doi:10.1152/ajpcell.00002.2023]
Bermejo-Guerrero, L, de la Hoz, CPDF, Guerrero-Molina, MP, Martín-Jiménez, P, Blázquez, A, Serrano-Lorenzo, P, Lora, D, Morales-Conejo, M, González-Martínez, I, López-Jiménez, EA, Martín, MA, Domínguez-González, C (2023).
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Journal of Clinical Medicine. Article. 12(6).
[doi:10.3390/jcm12062435]
Mayoral, IH, Santiago, AA, Sánchez-Zapardiel, JM, Calero, BH, de la Hoya, M, Gómez-Sanz, A, Reyes, MD, Robles, L (2023).
Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2
Genes. Article. 14(2).
[doi:10.3390/genes14020502]
Guerrero-Molina, MP, Morales-Conejo, M, Delmiro, A, Moran, M, Dominguez-Gonzalez, C, Arranz-Canales, E, Ramos-Gonzalez, A, Arenas, J, Martin, MA, de la Aleja, JG (2023).
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
EUROPEAN JOURNAL OF NEUROLOGY. Article. 30(2):538-547.
[doi:10.1111/ene.15626]
Aye, CC, Hammond, DE, Rodriguez-Cuenca, S, Doherty, MK, Whitfield, PD, Phelan, MM, Yang, CJ, Perez-Perez, R, Li, XX, Diaz-Ramos, A, Peddinti, G, Oresic, M, Vidal-Puig, A, Zorzano, A, Ugalde, C, Mora, S (2023).
CBL/CAP Is Essential for Mitochondria Respiration Complex I Assembly and Bioenergetics Efficiency in Muscle Cells
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 24(4).
[doi:10.3390/ijms24043399]
Weihl, CC, Topf, A, Bengoechea, R, Duff, J, Charlton, R, Garcia, SK, Dominguez-Gonzalez, C, Alsaman, A, Hernandez-Lain, A, Franco, LV, Sanchez, MEP, Beecroft, SJ, Goullee, H, Daw, J, Bhadra, A, True, H, Inoue, M, Findlay, AR, Laing, N, Olive, M, Ravenscroft, G, Straub, V (2023).
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
ACTA NEUROPATHOLOGICA. Article. 145(1):127-143.
[doi:10.1007/s00401-022-02510-8]
Rosado-Bartolomé, A, Domínguez-González, C (2023).
Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida.
REVISTA DE NEUROLOGIA. Article. 76(1):15-19.
[doi:10.33588/rn.7601.2022380]
Rincón-Castanedo, C, Martín-Ruiz, A, Zazo, S, Huertas, ALL, Valenzuela, PL, Morán, M, Fleck, SJ, Santos-Lozano, A, Ramírez, M, Rojo, F, Lucia, A, González-Murillo, A, Fiuza-Luces, C (2023).
Combined exercise intervention in a mouse model of high-risk neuroblastoma: effects on physical, immune, tumor and clinical outcomes.
EXERCISE IMMUNOLOGY REVIEW. Review. 29.
Amate-García, G, Ballesta-Martínez, MJ, Serrano-Lorenzo, P, Garrido-Moraga, R, González-Quintana, A, Blázquez, A, Rubio, JC, García-Consuegra, I, Arenas, J, Ugalde, C, Morán, M, Guillén-Navarro, E, Martín, MA (2023).
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
International Journal Of Molecular Sciences. Article. 24(2).
[doi:10.3390/ijms24021743]
2022
Solares, I, Jericó, D, Córdoba, KM, Morales-Conejo, M, Ena, J, Enríquez de Salamanca R, Fontanellas, A (2022).
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Review. 24(1).
[doi:10.3390/ijms24010051]
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L (2022).
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
JOURNAL OF MEDICAL GENETICS. Article. 60:615-619.
[doi:10.1136/jmg-2022-108828]
Domínguez-González C, Díaz-Marín C, Juntas-Morales R, Nascimiento-Osorio A, Rivera-Gallego A, Díaz-Manera J (2022).
Survey on the management of Pompe disease in routine clinical practice in Spain.
ORPHANET JOURNAL OF RARE DISEASES. Article. 17(1):426-426.
[doi:10.1186/s13023-022-02574-5]
Cano, A, Alcalde, C, Belanger-Quintana, A, Canedo-Villarroya, E, Ceberio, L, Chumillas-Calzada, S, Correcher, P, Couce, ML, Garcia-Arenas, D, Gomez, I, Hernandez, T, Izquierdo-Garcia, E, Chicano, DM, Morales, M, Pedron-Giner, C, Jauregui, EP, Pena-Quintana, L, Sanchez-Pintos, P, Serrano-Nieto, J, Suarez, MU, Minana, IV, de las Heras, J (2022).
Vitamin C and folate status in hereditary fructose intolerance
EUROPEAN JOURNAL OF CLINICAL NUTRITION. Article. 76(12):1733-1739.
[doi:10.1038/s41430-022-01178-3]
Villarreal-Salazar M, Santalla A, Real-Martínez A, Nogales-Gadea G, Valenzuela PL, Fiuza-Luces C, Andreu AL, Rodríguez-Aguilera JC, Martín MA, Arenas J, Vissing J, Lucia A, Krag TO, Pinós T (2022).
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular Metabolism. Article. 66:101648-101648.
[doi:10.1016/j.molmet.2022.101648]
Fernández-Vizarra E, Ugalde C (2022).
Cooperative assembly of the mitochondrial respiratory chain.
TRENDS IN BIOCHEMICAL SCIENCES. Review. 47(12):999-1008.
[doi:10.1016/j.tibs.2022.07.005]
Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M (2022).
Mutation update for the ACTN2 gene
HUMAN MUTATION. Article. 43(12):1745-1756.
[doi:10.1002/humu.24470]
Fernandez-Vizarra, E, Lopez-Calcerrada, S, Sierra-Magro, A, Perez-Perez, R, Formosa, LE, Hock, DH, Illescas, M, Peñas A, Brischigliaro, M, Ding, SJ, Fearnley, IM, Tzoulis, C, Pitceathly RDS, Arenas, J, Martin, MA, Stroud, DA, Zeviani, M, Ryan, MT, Ugalde, C (2022).
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.
CELL METABOLISM. Article. 34(11):1792.
[doi:10.1016/j.cmet.2022.09.005]
Ortuno-Costela, MD, Cerrada, V, Moreno-Izquierdo, A, Garcia-Consuegra, I, Laberthonniere, C, Delourme, M, Garesse, R, Arenas, J, Garcia, CF, Garcia, GG, Millan, JM, Magdinier, F, Gallardo, ME (2022).
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 23(22).
[doi:10.3390/ijms232213964]
Canales-Siguero D, García-Muñoz C, Quijada Fraile P, Morales Conejo M, Ferrari-Piquero JM, Martín-Hernández E (2022).
Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients.
MEDICINA CLINICA. Article. 159(8):380-384.
[doi:10.1016/j.medcli.2022.02.006]
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B (2022).
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 23(21).
[doi:10.3390/ijms232112850]
Bermejo-Guerrero L, Arteche-López A, de Fuenmayor Fernández de la Hoz C, Hernández-Laín A, Martín MA, Domínguez-González C (2022).
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
BRAIN. Case Reports. 145(10):99-102.
[doi:10.1093/brain/awac286]
Løkken N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MA, Diaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Perez, J, Toscano, A, Vissing, J (2022).
Muscle MRI in McArdle Disease: A European Multicenter Observational Study.
NEUROLOGY. Article. 99(15):1664-1675.
[doi:10.1212/WNL.0000000000200914]
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J (2022).
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. Article. 93(10):1099-1111.
[doi:10.1136/jnnp-2022-328921]
Martín-Jiménez P, Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Arteche-López A, Quesada-Espinosa JF, Voth AH, Vesperinas A, Olivé M, Domínguez-González C (2022).
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
MUSCLE & NERVE. Letter. 66(4):13-15.
[doi:10.1002/mus.27678]
Serrano-Lorenzo, P, Rabasa, M, Esteban, J, Mayoral, IH, Dominguez-Gonzalez, C, Blanco-Echevarria, A, Garrido-Moraga, R, Lucia, A, Blazquez, A, Rubio, JC, Palma-Milla, C, Arenas, J, Martin, MA (2022).
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THE WOMEN'S PHYSIOLOGICAL EQUIVALENT OF A 2-H MARATHON
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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
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Long Term Outcomes of ERT in Children with Gaucher Disease. Spanish Experience
BLOOD. Meeting Abstract. 124(21).
Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, Van den Bergh, Peter, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders (2014).
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
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Ribofl avin-responsive multiple acyl-CoA dehydrogenase deficiency (MAD): light and ultrastructural findings in muscle biopsy
BRAIN PATHOLOGY. Meeting Abstract. 24(1, SI):62-63.
Fiuza-Luces C, Delmiro A, Soares-Miranda L, González-Murillo A, Martínez-Palacios J, Ramírez M, Lucia A, Morán M (2014).
Exercise training can induce cardiac autophagy at end-stage chronic conditions: Insights from a graft-versus-host-disease mouse model
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BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. Article. 1842(7):1059-1070.
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
HUMAN MOLECULAR GENETICS. Article. 23(3):749-754.
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JOURNAL OF NEUROSURGERY-SPINE. Article. 20(2):191-195.
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Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MA, Arenas J, Martínez-Azorín F (2013).
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
HUMAN MUTATION. Article. 34(12):1623-1627.
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A new cell therapy approach: endogenous stem cell mobilization against amyotrophic lateral sclerosis
HUMAN GENE THERAPY. Meeting Abstract. 24(12):121-121.
Villar, Pedro, Breton, Begona, Garcia-Pavia, Pablo, Gonzalez-Paramos, Cristina, Blazquez, Alberto, Gomez-Bueno, Manuel, Garcia-Silva, Teresa, Garcia-Consuegra, Ines, Angel Martin, Miguel, Garesse, Rafael, Bornstein, Belen, Esther Gallardo, M. (2013).
Cardiac Dysfunction in Mitochondrial Disease - Clinical and Molecular Features
CIRCULATION JOURNAL. Article. 77(11):2799-2806.
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Rivera, Henry, Martin-Hernandez, Elena, Delmiro, Aitor, Teresa Garcia-Silva, Maria, Quijada-Fraile, Pilar, Muley, Rafael, Arenas, Joaquin, Martin, Miguel A., Martinez-Azorin, Francisco (2013).
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
BMC NEPHROLOGY. Article. 14(195):195-195.
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Tort, Frederic, Teresa Garcia-Silva, Maria, Ferrer-Cortes, Xenia, Navarro-Sastre, Aleix, Garcia-Villoria, Judith, Josep Coll, Maria, Vidal, Enrique, Jimenez-Almazan, Jorge, Dopazo, Joaquin, Briones, Paz, Elpeleg, Orly, Ribes, Antonia (2013).
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
MOLECULAR GENETICS AND METABOLISM. Article. 110(1-2):73-77.
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Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS)
EUROPEAN JOURNAL OF CANCER. Article. 49(13):2910-2918.
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Exercise Benefits in Chronic Graft versus Host Disease: A Murine Model Study
MEDICINE & SCIENCE IN SPORTS & EXERCISE. Article. 45(9):1703-1711.
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I Function, Therefore I Am: Overcoming Skepticism about Mitochondrial Supercomplexes
CELL METABOLISM. Editorial Material. 18(2):147-149.
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Lucia, Alejandro, Quinlivan, Ros, Wakelin, Andrew, Martin, Miguel A., Andreu, Antoni L. (2013).
The ``McArdle paradox': exercise is a good advice for the exercise intolerant
BRITISH JOURNAL OF SPORTS MEDICINE. Editorial Material. 47(12):728-729.
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MUSCLE-SPECIFIC OVEREXPRESSION OF THE CATALYTIC SUBUNIT OF DNA POLYMERASE gamma INDUCES PUPAL LETHALITY IN Drosophila melanogaster
ARCHIVES OF INSECT BIOCHEMISTRY AND PHYSIOLOGY. Article. 83(3):127-137.
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Garcia-Benitez, Sergio, Fleck, Steven J., Naclerio, Fernando, Angel Martin, Miguel, Lucia, Alejandro (2013).
Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease
JOURNAL OF CHILD NEUROLOGY. Article. 28(6):802-805.
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Benefits of adding an exercise intervention to conventional immunosuppression in chronic graft versus host disease: insights from a murine model.
CANCER RESEARCH. Meeting Abstract. 73(8, 1).
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
HUMAN MUTATION. Article. 34(1):79-82.
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Fiuza-Luces C, González-Murillo A, Soares-Miranda L, Martínez Palacio J, Colmenero I, Casco F, Melén G, Morán M, Lucia A, Ramírez M (2013).
Effects of Exercise Interventions in Graft-Versus-Host Disease Models
CELL TRANSPLANTATION. Article. 22(12):2409-2420.
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Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism
ARTHRITIS RESEARCH & THERAPY. Article. 15(5).
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Garone, Caterina, Carlos Rubio, Juan, Calvo, Sarah E., Naini, Ali, Tanji, Kurenai, DiMauro, Salvatore, Mootha, Vamsi K., Hirano, Michio (2012).
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
ARCHIVES OF NEUROLOGY. Article. 69(12):1648-1651.
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Ruiz, Jonatan R., Fiuza-Luces, Carmen, Buxens, Amaya, Cano-Nieto, Amalia, Gomez-Gallego, Felix, Santiago, Catalina, Rodriguez-Romo, Gabriel, Garatachea, Nuria, Lao, Jose I., Moran, Maria, Lucia, Alejandro (2012).
Are centenarians genetically predisposed to lower disease risk?
Age. Article. 34(5):1269-1283.
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Identification of potential biomarkers for complex III deficiency by 2D-DIGE proteomic approach
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. Meeting Abstract. 1817(S):139-140.
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Ugalde, C., Moreno-Lastres, D., Fontanesi, F., Garcia-Consuegra, I., Martin, M. A., Barrientos, A., Arenas, J. (2012).
Mitochondrial complex I plays an essential role in human respirasome assembly
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. Meeting Abstract. 1817(S):140-140.
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Oreja-Guevara, C., Rodriguez de Rivera, F. J., Mascias, J., Munoz-Blanco, J. L., Esteban, J., Galan, L., Villanueva-Marcos, J. L. (2012).
Perception of ALS patients, carers and doctors regarding clinical management
EUROPEAN JOURNAL OF NEUROLOGY. Meeting Abstract. 19(1, SI):278-278.
Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M. (2012).
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
JOURNAL OF INHERITED METABOLIC DISEASE. Review. 35(5):737-747.
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Moran, Maria, Moreno-Lastres, David, Marin-Buera, Lorena, Arenas, Joaquin, Martin, Miguel A., Ugalde, Cristina (2012).
Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration
FREE RADICAL BIOLOGY AND MEDICINE. Review. 53(3):595-609.
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Navarro-Sastre, Aleix, Martin-Hernandez, Elena, Campos, Yolanda, Quintana, Ester, Medina, Enrique, Simon de las Heras, Rogelio, Lluch, Montserrat, Munoz, Alberto, del Hoyo, Pilar, Martin, Rebeca, Gort, Laura, Briones, Paz, Ribes, Antonia (2012).
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form (vol 94, pg 234, 2008)
MOLECULAR GENETICS AND METABOLISM. Correction. 106(4):504-504.
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Peralta, Susana, Clemente, Paula, Sanchez-Martinez, Alvaro, Calleja, Manuel, Hernandez-Sierra, Rosana, Matsushima, Yuichi, Adan, Cristina, Ugalde, Cristina, Angel Fernandez-Moreno, Miguel, Kaguni, Laurie S., Garesse, Rafael (2012).
Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for Cytochrome c Oxidase Function
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Nogales-Gadea, Gisela, Pinos, Tomas, Lucia, Alejandro, Arenas, Joaquin, Camara, Yolanda, Brull, Astrid, de Luna, Noemi, Martin, Miguel A., Garcia-Arumi, Elena, Marti, Ramon, Andreu, Antoni L. (2012).
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease
BRAIN. Article. 135(7):2048-2057.
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REVISTA DE NEUROLOGIA. Review. 54(7):425-434.
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Canueto, J., Giros, M., Ciria, S., Pi-Castan, G., Artigas, M., Garcia-Dorado, J., Garcia-Patos, V., Viros, A., Vendrell, T., Torrelo, A., Hernandez-Martin, A., Martin-Hernandez, E., Garcia-Silva, M. T., Fernandez-Burriel, M., Rosell, J., Tejedor, M., Martinez, F., Valero, J., Garcia, J. L., Sanchez-Tapia, E. M., Unamuno, P., Gonzalez-Sarmiento, R. (2012).
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
BRITISH JOURNAL OF DERMATOLOGY. Article. 166(4):830-838.
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Genetic Biomarkers for ALS Disease in Transgenic SOD1(G93A) Mice
PLOS ONE. Article. 7(3).
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Moreno-Lastres, David, Fontanesi, Flavia, Garcia-Consuegra, Ines, Martin, Miguel A., Arenas, Joaquin, Barrientos, Antoni, Ugalde, Cristina (2012).
Mitochondrial Complex I Plays an Essential Role in Human Respirasome Assembly
CELL METABOLISM. Article. 15(3):324-335.
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Garcia-Jimenez, M. C., Baldellou, A., Garcia-Silva, M. T., Dalmau-Serra, J., Garcia-Cazorla, A., Gomez-Lopez, L., Pedron Giner, C., Alonso Luengo, O., Pena Quintana, L., Luz Couce, M., Martinez-Pardo, M., Lambruschini, N. (2012).
Epidemiological study of the metabolic diseases with homocystinuria in Spain
ANALES DE PEDIATRIA. Article. 76(3):133-139.
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Martin-Jimenez, Rebeca, Martin-Hernandez, Elena, Cabello, Ana, Teresa Garcia-Silva, Maria, Arenas, Joaquin, Campos, Yolanda (2012).
Clinical and cellular consequences of the mutation m.12300G > A in the mitochondrial tRNA(Leu(CUN)) gene
MITOCHONDRION. Article. 12(2):288-293.
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Lucia, Alejandro, Ruiz, Jonatan R., Santalla, Alfredo, Nogales-Gadea, Gisela, Rubio, Juan C., Garcia-Consuegra, Ines, Cabello, Ana, Perez, Margarita, Teijeira, Susana, Vieitez, Irene, Navarro, Carmen, Arenas, Joaquin, Martin, Miguel A., Andreu, Antoni L. (2012).
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. Article. 83(3):322-328.
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Arredondo, Juan J., Esther Gallardo, M., Garcia-Pavia, Pablo, Domingo, Veronica, Breton, Begona, Teresa Garcia-Silva, M., Jesus Sedano, M., Martin, Miguel A., Arenas, Joaquin, Cervera, Margarita, Garesse, Rafael, Bornstein, Belen (2012).
Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies
MITOCHONDRION. Article. 12(2):357-362.
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Fernandez-Santander, Ana, Valveny, Neus, Harich, Nourdin, Kandil, Mustafa, Luna, Francisco, Angel Martin, Miguel, Carlos Rubio, Juan, Lucia, Alejandro, Gaibar, Maria (2012).
Polymorphisms influencing muscle phenotypes in North-African and Spanish populations
ANNALS OF HUMAN BIOLOGY. Article. 39(2):166-169.
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Nogales-Gadea, Gisela, Consuegra-Garcia, Ines, Rubio, Juan C., Arenas, Joaquin, Cuadros, Marc, Camara, Yolanda, Torres-Torronteras, Javier, Fiuza-Luces, Carmen, Lucia, Alejandro, Martin, Miguel A., Garcia-Arumi, Elena, Andreu, Antoni L. (2012).
A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
PLOS ONE. Article. 7(2).
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Sanchez-Ferrero, Elena, Coto, Eliecer, Corao, Ana I., Diaz, Marta, Gamez, Josep, Esteban, Jesus, Gonzalo, Juan F., Pascual-Pascual, Samuel I., Lopez De Munain, Adolfo, Moris, German, Infante, Jon, Del Castillo, Emilia, Marquez, Celedonio, Alvarez, Victoria (2012).
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia
JOURNAL OF NEUROLOGY. Article. 259(2):246-250.
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Pinos, Toms, Nogales-Gadea, Gisela, Ruiz, Jonatan R., Rodriguez-Romo, Gabriel, Santiago-Dorrego, Catalina, Fiuza-Luces, Carmen, Gomez-Gallego, Felix, Cano-Nieto, Amalia, Garatachea, Nuria, Moran, Maria, Angel Martin, Miguel, Arenas, Joaquin, Andreu, Antoni L., Lucia, Alejandro (2012).
Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort
Age. Article. 34(1):227-233.
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Vela, A., Galan, L., Valencia, C., de la Torre, P., Cuadrado, M. L., Esteban, J., Guerrero, A., Garcia-Redondo, A., Matias-Guiu, J. (2012).
SOD1-N196 mutation in a family with amyotrophic lateral sclerosis
NEUROLOGIA. Article. 27(1):11-15.
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Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, Pérez-Alonso V, Vivanco J (2012).
Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.
Jimd Reports. Article. 6:73-78.
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2011
Nogales-Gadea, Gisela, Pinos, Tomas, Ruiz, Jonastan R., Femia Marzo, Pedro, Fiuza-Luces, Carmen, Lopez-Gallardo, Ester, Ruiz-Pesini, Eduardo, Angel Martin, Miguel, Arenas, Joaquin, Moran, Maria, Andreu, Antoni L., Lucia, Alejandro (2011).
Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort
MITOCHONDRION. Article. 11(6):905-908.
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Carreno, Oriel, Teresa Garcia-Silva, Maria, Garcia-Campos, Oscar, Martinez-de Aragon, Ana, Cormand, Bru, Macaya, Alfons (2011).
Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation
HEADACHE. Article. 51(10):1542-1546.
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Tondo, Mireia, Malaga, Ignacio, O'Callaghan, Mar, Serrano, Mercedes, Emperador, Sonia, Ormazabal, Aida, Ruiz-Pesini, Eduardo, Montoya, Julio, Garcia-Silva, Maria T., Martin-Hernandez, Elena, Garcia-Cazorla, Angels, Pineda, Merce, Artuch, Rafael (2011).
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
MITOCHONDRION. Article. 11(6):867-870.
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Luz Couce, Maria, Perez-Cerda, Celia, Garcia Silva, Maria Teresa, Garcia Cazorla, Angels, Martin-Hernandez, Elena, Castineiras, Daisy, Pineda, Merce, Navarrete, Rosa, Campistol, Jaume, Maria Fraga, Jose, Perez, Belen, Ugarte, Magdalena (2011).
Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease
MEDICINA CLINICA. Article. 137(11):500-503.
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Quijada Fraile P, Martín Hernández E, Teresa García-Silva M (2011).
Evolución clínica de dos pacientes pediátricos con enfermedad de Gaucher en tratamiento enzimático durante 9 años.
MEDICINA CLINICA. Abstract of Published Item. 137 Suppl 1:43-45.
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Fiuza-Luces, Carmen, Ruiz, Jonatan R., Rodriguez-Romo, Gabriel, Santiago, Catalina, Gomez-Gallego, Felix, Cano-Nieto, Amalia, Garatachea, Nuria, Rodriguez-Moreno, Inmaculada, Moran, Maria, Lucia, Alejandro (2011).
Is the ACE I/D polymorphism associated with extreme longevity? A study on a Spanish cohort
JOURNAL OF THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM. Article. 12(3):202-207.
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Solis-Munoz, Pablo, Solis-Herruzo, Jose A., Fernandez-Moreira, Daniel, Gomez-Izquierdo, Erica, Garcia-Consuegra, Ines, Munoz-Yaguee, Teresa, Garcia Ruiz, Inmaculada (2011).
Melatonin improves mitochondrial respiratory chain activity and liver morphology in ob/ob mice
JOURNAL OF PINEAL RESEARCH. Article. 51(1):113-123.
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Eynon, Nir, Moran, Maria, Birk, Ruth, Lucia, Alejandro (2011).
The champions' mitochondria: is it genetically determined? A review on mitochondrial DNA and elite athletic performance
PHYSIOLOGICAL GENOMICS. Article. 43(13):789-798.
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Garrido, E., Palomo, T., Ponce, G., Garcia-Consuegra, I., Jimenez-Arriero, M. A., Hoenicka, J. (2011).
The ANKK1 Protein Associated with Addictions has Nuclear and Cytoplasmic Localization and Shows a Differential Response of Ala239Thr to Apomorphine
NEUROTOXICITY RESEARCH. Article. 20(1):32-39.
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Castro-Gago, Manuel, Gomez-Lado, Carmen, Perez-Gay, Laura, Eiris-Punal, Jesus, Pintos Martinez, Elena, Garcia-Consuegra, Ines, Angel Martin, Miguel (2011).
Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant
JOURNAL OF CHILD NEUROLOGY. Article. 26(6):734-737.
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Posada, I. J., Gallardo, M. E., Dominguez, C., Rivera, H., Cabello, A., Arenas, J., Martin, M. A., Garesse, R., Borstein, B. (2011).
I-123-FP-CIT SPECT alteration without parkinsonism in SANDO phenotype due to POLG mutations
MOVEMENT DISORDERS. Meeting Abstract. 26(2):344-344.
Tondo, M., Ramon, F., Malaga, I., O'Callaghan, M., Serrano, M., Emperador, S., Ormazabal, A., Ruiz-Pesini, E., Montoya, J., Garcia-Silva, M. T., Garcia-Cazorla, A., Pineda, M., Artuch, R. (2011).
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome
CLINICAL BIOCHEMISTRY. Meeting Abstract. 44(7, SI):546-546.
[doi:10.1016/j.clinbiochem.2011.03.117]
Fiuza-Luces, Carmen, Ruiz, Jonatan R., Rodriguez-Romo, Gabriel, Santiago, Catalina, Gomez-Gallego, Felix, Yvert, Thomas, Cano-Nieto, Amalia, Garatachea, Nuria, Moran, Maria, Lucia, Alejandro (2011).
Are `Endurance' Alleles `Survival' Alleles? Insights from the ACTN3 R577X Polymorphism
PLOS ONE. Article. 6(3).
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Ruiz, Jonatan R., Moran, Maria, Arenas, Joaquin, Lucia, Alejandro (2011).
Strenuous endurance exercise improves life expectancy: it's in our genes
BRITISH JOURNAL OF SPORTS MEDICINE. Editorial Material. 45(3):159-161.
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Cillero-Pastor, Berta, Martin, Miguel A., Arenas, Joaquin, Lopez-Armada, Maria J., Blanco, Francisco J. (2011).
Effect of nitric oxide on mitochondrial activity of human synovial cells
BMC MUSCULOSKELETAL DISORDERS. Article. 12(42):42-42.
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Santiago, Catalina, Ruiz, Jonatan R., Rodriguez-Romo, Gabriel, Fiuza-Luces, Carmen, Yvert, Thomas, Gonzalez-Freire, Marta, Gomez-Gallego, Felix, Moran, Maria, Lucia, Alejandro (2011).
The K153R Polymorphism in the Myostatin Gene and Muscle Power Phenotypes in Young, Non-Athletic Men
PLOS ONE. Article. 6(1).
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Manzano, Raquel, Toivonen, Janne M., Olivan, Sara, Calvo, Ana C., Moreno-Igoa, Maria, Munoz, Maria J., Zaragoza, Pilar, Garcia-Redondo, Alberto, Osta, Rosario (2011).
Altered Expression of Myogenic Regulatory Factors in the Mouse Model of Amyotrophic Lateral Sclerosis
NEURODEGENERATIVE DISEASES. Article. 8(5):386-396.
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Eynon, Nir, Ruiz, Jonatan R., Meckel, Yoav, Moran, Maria, Lucia, Alejandro (2011).
Mitochondrial biogenesis related endurance genotype score and sports performance in athletes
MITOCHONDRION. Article. 11(1):64-69.
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Molero, M., Serrano, M., Ortez, C., Ormazabal, A., Tondo, M., Perez-Duenas, B., Perez, B., Lopez-Laso, E., Garcia-Silva, M. T., Pineda, M., Campistol, J., Garcia-Cazorla, A., Artuch, R. (2011).
ASSOCIATION OF CEREBROSPINAL FLUID HOMOVANILLIC ACID AND NEUROLOGICAL DISEASES
JOURNAL OF INHERITED METABOLIC DISEASE. Meeting Abstract. 34(3):131-131.
Tondo, M., Malaga, I, O'Callahan, M., Emperador, S., Ormazabal, A., Ruiz-Pesini, E., Montoya, J., Garcia-Silva, M. T., Garcia-Cazorla, A., Pineda, M., Artuch, R. (2011).
BIOCHEMICAL PARAMETERS TO ASSESS CHOROID PLEXUS DYSFUNCTION IN KEARNS-SAYRE SYNDROME
JOURNAL OF INHERITED METABOLIC DISEASE. Meeting Abstract. 34(3):165-165.
2010
Rodriguez-Romo, Gabriel, Ruiz, Jonatan R., Santiago, Catalina, Fiuza-Luces, Carmen, Gonzalez-Freire, Marta, Gomez-Gallego, Felix, Moran, Maria, Lucia, Alejandro (2010).
Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY. Article. 110(6):1099-1106.
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Navarro-Sastre, Aleix, Garcia-Silva, Maria Teresa, Martin-Hernandez, Elena, Lluch, Montserrat, Briones, Paz, Ribes, Antonia (2010).
Functional splicing assay supporting that c.70+5G > A mutation in the MPV17 gene is disease causing
JOURNAL OF INHERITED METABOLIC DISEASE. Article. 33(3):293-296.
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Dominguez-Gonzalez, Cristina, de Pablo-Fernandez, Eduardo, Francisco Gonzalo-Martinez, Juan, Garcia-Redondo, Alberto, Cordero-Vazquez, Pilar, Esteban-Perez, Jesus, Gutierrez-Rivas, Eduardo (2010).
Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene
REVISTA DE NEUROLOGIA. Letter. 51(9):571-572.
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Quijada Fraile, P., Martin Hernandez, E., Martinez de Aragon, A., Macias-Vidal, J., Coll, M. J., Nogales Espert, A., Garcia Silva, M. T. (2010).
Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes
ANALES DE PEDIATRIA. Article. 73(5):257-263.
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Rae, Dale E., Noakes, Timothy D., San Juan, Alejandro F., Perez, Margarita, Nogales-Gadea, Gisela, Ruiz, Jonatan R., Moran, Maria, Martin, Miguel A., Andreu, Antoni L., Arenas, Joaquin, Lucia, Alejandro (2010).
Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY. Article. 110(5):1047-1055.
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del Hoyo, Pilar, Garcia-Redondo, Alberto, de Bustos, Fernando, Antonio Molina, Jose, Sayed, Youssef, Alonso-Navarro, Hortensia, Caballero, Luis, Arenas, Joaquin, Agundez, Jose A. G., Javier Jimenez-Jimenez, Felix (2010).
Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease
BMC NEUROLOGY. Article. 10(95):95-95.
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Alvarez, Victoria, Sanchez-Ferrero, Elena, Beetz, Christian, Diaz, Marta, Alonso, Belen, Corao, Ana I., Gamez, Josep, Esteban, Jesus, Gonzalo, Juan F., Pascual-Pascual, Samuel I., Lopez de Munain, Adolfo, Moris, German, Ribacoba, Renne, Marquez, Celedonio, Rosell, Jordi, Marin, Rosario, Garcia-Barcina, Maria J., del Castillo, Emilia, Benito, Carmen, Coto, Eliecer, Grp Study Genetics Spastic (2010).
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
BMC NEUROLOGY. Article. 10(89):89-89.
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Nogales-Gadea, Gisela, Mormeneo, Emma, Garcia-Consuegra, Ines, Rubio, Juan C., Orozco, Anna, Arenas, Joaquin, Martin, Miguel A., Lucia, Alejandro, Gomez-Foix, Anna M., Marti, Ramon, Andreu, Antoni L. (2010).
Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation
PLOS ONE. Article. 5(10).
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Posada, Ignacio J., Esther Gallardo, Maria, Dominguez, Cristina, Rivera, Henry, Cabello, Ana, Arenas, Joaquin, Martin, Miguel A., Garesse, Rafael, Bornstein, Belen (2010).
Mitochondrial DNA depletion and polg mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia
MEDICINA CLINICA. Article. 135(10):452-455.
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Salas Campos, Teresa, Rodriguez-Santos, Francisco, Esteban, Jesus, Cordero Vazquez, Pilar, Mora Pardina, Jesus S., Cano Carmona, Alejandra (2010).
Spanish adaptation of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R)
AMYOTROPHIC LATERAL SCLEROSIS. Article. 11(5):475-477.
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Gil Borlado, Mari Carmen, Moreno Lastres, David, Gonzalez Hoyuela, Maritza, Moran, Maria, Blazquez, Alberto, Pello, Rosa, Marin Buera, Lorena, Gabaldon, Toni, Garcia Penas, Juan Jose, Martin, Miguel A., Arenas, Joaquin, Ugalde, Cristina (2010).
Impact of the Mitochondrial Genetic Background in Complex III Deficiency
PLOS ONE. Article. 5(9).
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de Pablo-Fernandez, Eduardo, Gonzalo-Martinez, Juan F., Alejandra Morales-Cartagena, C., Sierra-Hidalgo, Fernando, Correas-Callero, Elisa, Labiano-Fontcuberta, Andres, Dominguez-Gonzalez, Cristina (2010).
Clinical and radiological presentation in deep cerebral venous thromboses in adults
REVISTA DE NEUROLOGIA. Letter. 51(6):378-380.
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Moran, Maria, Marin-Buera, Lorena, Carmen Gil-Borlado, M., Rivera, Henry, Blazquez, Alberto, Seneca, Sara, Vazquez-Lopez, Maria, Arenas, Joaquin, Martin, Miguel A., Ugalde, Cristina (2010).
Cellular Pathophysiological Consequences of BCS1L Mutations in Mitochondrial Complex III Enzyme Deficiency
HUMAN MUTATION. Article. 31(8):930-941.
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Serrano, Mercedes, Teresa Garcia-Silva, Maria, Martin-Hernandez, Elena, del Mar O'Callaghan, Maria, Quijada, Pilar, Martinez-Aragon, Ana, Ormazabal, Aida, Blazquez, Alberto, Martin, Miguel A., Briones, Paz, Lopez-Gallardo, Ester, Ruiz-Pesini, Eduardo, Montoya, Julio, Artuch, Rafael, Pineda, Mercedes (2010).
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
MITOCHONDRION. Article. 10(5):429-432.
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Artuch, R., Garcia-Silva, M. T., O'Callaghan, M., Ormazabal, A., Blazquez, A., Martin, M. A., Lopez-Gallardo, E., Montoya, J., Pineda, M. (2010).
KEARNS-SAYRE SYNDROME AND CEREBRAL FOLATE DEFICIENCY
JOURNAL OF INHERITED METABOLIC DISEASE. Meeting Abstract. 33(1):163-163.
Rivera, Henry, Merinero, Begona, Martinez-Pardo, Mercedes, Arroyo, Ignacio, Ruiz-Sala, Pedro, Bornstein, Belen, Serra-Suhe, Clara, Gallardo, Esther, Marti, Ramon, Moran, Maria J., Ugalde, Cristina, Perez-Jurado, Luis A., Andreu, Antoni L., Garesse, Rafael, Ugarte, Magdalena, Arenas, Joaquin, Martin, Miguel A. (2010).
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
MITOCHONDRION. Article. 10(4):362-368.
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Moran, M., Rivera, H., Sanchez-Arago, M., Blazquez, A., Merinero, B., Ugalde, C., Arenas, J., Cuezva, J. M., Martin, M. A. (2010).
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. Article. 1802(5):443-453.
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Dolores Herrero-Martin, Maria, Ayuso, Teresa, Teresa Tunon, Maria, Angel Martin, Miguel, Ruiz-Pesini, Eduardo, Montoya, Julio (2010).
A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G > A mutation
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. Letter. 81(4):471-472.
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Lucia, Alejandro, Moran, Maria, Zihong, He, Ruiz, Jonatan R. (2010).
Elite Athletes: Are the Genes the Champions?
INTERNATIONAL JOURNAL OF SPORTS PHYSIOLOGY AND PERFORMANCE. Article. 5(1):98-102.
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Bornstein, Belen, Almoguera, Berta, Pello, Rosa, Gallardo, Esther, Martin, M. A., Arenas, Joaquin, Garesse, Rafael (2010).
Molecular characterization of mitochondrial diseases with cardiac dysfunction
MITOCHONDRION. Meeting Abstract. 10(2):202-202.
[doi:10.1016/j.mito.2009.12.009]
de Pablo-Fernandez, Eduardo, Dominguez-Gonzalez, Cristina (2010).
Vertebral Hemangioma Causing Spinal Cord Compression
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES. Editorial Material. 37(2):269-270.
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Vargas, Teo, Antequera, Desiree, Ugalde, Cristina, Spuch, Carlos, Carro, Eva (2010).
Gelsolin Restores A beta-Induced Alterations in Choroid Plexus Epithelium
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY. Article. 2010(805405):805405-805405.
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2009
Castro-Gago, Manuel, Oscar Blanco-Barca, Manuel, Gomez-Lado, Carmen, Eiris-Punal, Jesus, Campos-Gonzalez, Yolanda, Arenas-Barbero, Joaquin (2009).
Respiratory chain complex I deficiency in an infant with Ohtahara syndrome
BRAIN & DEVELOPMENT. Article. 31(4):322-325.
[doi:10.1016/j.braindev.2008.05.009]
2008
Castro-Gago, N., Blanco-Barea, O., Gomez-Lado, C., Pintos-Martinez, E., Campos-Gonzalez, Y., Eiris-Punal, J. (2008).
Mitochondrial patology autistic spectrum association
REVISTA DE NEUROLOGIA. Letter. 47(1):52-53.
[doi:10.33588/rn.4701.2007542]
Navarro-Sastre, Aleix, Martin-Hernandez, Elena, Campos, Yolanda, Quintana, Ester, Medina, Enrique, Simon de las Heras, Rogelio, Lluch, Montserrat, Munoz, Alberto, del Hoyo, Pilar, Martin, Rebeca, Gort, Laura, Briones, Paz, Ribes, Antonia (2008).
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form
MOLECULAR GENETICS AND METABOLISM. Article. 94(2):234-239.
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Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V (2008).
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
BRAIN. Article. 131(2):338-351.
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Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Hernández-Laín A, Coca-Robinot D, Rivera H, Fernández-Toral J, Arenas J, Martín M, Martínez-Azorín F ().
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY. Article.
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Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kolker S, Kozich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, Alcalde Martin C, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Pelaez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, Garcia Jimenez MC, Garcia Silva MT, Gaspar AM, Gautschi M, Gonzalez-Lamuno D, Gouveia S, Grunewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedron-Giner C, Ruiz Gomez MA, Santra S, Schiff M, Schwartz IV, Scholl-Burgi S, Servais A, Skouma A, Tran C, Vives Pinera I, Walter J, Weisfeld-Adams J, EHOD consortium ().
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry.
JOURNAL OF INHERITED METABOLIC DISEASE. Article.
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