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EUROPEAN JOURNAL OF NEUROLOGY. Meeting Abstract. 19(1, SI):278-278.
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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
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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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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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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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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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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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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]
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.
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.
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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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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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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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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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.
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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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.
[doi:10.1002/humu.21294]
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.
[doi:10.1016/j.mito.2010.03.003]
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.
[doi:10.1016/j.bbadis.2010.02.001]
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.
[doi:10.1136/jnnp.2009.173831]
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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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]
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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