Search Results - "Domínguez González, Cristina"

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy by Domínguez‐González, Cristina, Madruga‐Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre‐Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín‐Hernández, Elena, Morealejo‐Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, Álvarez del Vayo, Concepcion, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres‐Torronteras, Javier, Jimenez‐Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio

“…Objective Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion…”
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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 by Guerrero‐Molina, María Paz, Domínguez‐González, Cristina, González de la Aleja, Jesús

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High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome by Guerrero‐Molina, María Paz, Morales‐Conejo, Montserrat, Delmiro, Aitor, Morán, María, Domínguez‐González, Cristina, Arranz‐Canales, Elena, Ramos‐González, Ana, Arenas, Joaquín, Martín, Miguel A., Aleja, Jesús González

“…Background and Purpose Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is a genetically heterogeneous disorder…”
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Retrospective natural history of thymidine kinase 2 deficiency by Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio

“…Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine…”
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Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene by Martín‐Jiménez, Paloma, Fuenmayor‐Fernández de la Hoz, Carlos Pablo de, Hernández‐Laín, Aurelio, Arteche‐López, Ana, Quesada‐Espinosa, Juan Francisco, Voth, Ana Hernández, Vesperinas, Ana, Olivé, Montse, Domínguez‐González, Cristina

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SOD1 mutations in adult‐onset distal spinal muscular atrophy by de Fuenmayor‐Fernández de la Hoz, Carlos Pablo, Hernández‐Laín, Aurelio, Olivé, Montse, Arteche López, Ana, Esteban, Jesús, Domínguez‐González, Cristina

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Survey on the management of Pompe disease in routine clinical practice in Spain by Domínguez-González, Cristina, Díaz-Marín, Carmina, Juntas-Morales, Raúl, Nascimiento-Osorio, Andrés, Rivera-Gallego, Alberto, Díaz-Manera, Jordi

“…Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare…”
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Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders by Peñas, Ana, Fernández-De la Torre, Miguel, Laine-Menéndez, Sara, Lora, David, Illescas, María, García-Bartolomé, Alberto, Morales-Conejo, Montserrat, Arenas, Joaquín, Martín, Miguel A., Morán, María, Domínguez-González, Cristina, Ugalde, Cristina

“…Mitochondrial disorders (MD) comprise a group of heterogeneous clinical disorders for which non-invasive diagnosis remains a challenge. Two protein biomarkers…”
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Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study by Laine-Menéndez, Sara, Domínguez-González, Cristina, Blázquez, Alberto, Delmiro, Aitor, García-Consuegra, Inés, Fernández-de la Torre, Miguel, Hernández-Laín, Aurelio, Sayas, Javier, Martín, Miguel Ángel, Morán, María

“…Our goal was to analyze postmortem tissues of an adult patient with late-onset thymidine kinase 2 (TK2) deficiency who died of respiratory failure. Compared…”
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency by Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A, Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M Dolores, Martí, Ramon, Paradas, Carmen

“…Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient…”
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Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis by García-Consuegra, Inés, Asensio-Peña, Sara, Garrido-Moraga, Rocío, Pinós, Tomàs, Domínguez-González, Cristina, Santalla, Alfredo, Nogales-Gadea, Gisela, Serrano-Lorenzo, Pablo, Andreu, Antoni L, Arenas, Joaquín, Zugaza, José L, Lucia, Alejandro, Martín, Miguel A

“…Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM)…”
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Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2 by Hernández‐Laín, Aurelio, Esteban‐Pérez, Jesús, Montenegro, Diana Cantero, Domínguez‐González, Cristina

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Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study by Hernáez, Leticia, Zoni, Ana Clara, Domínguez-Berjón, María-Felicitas, Esteban-Vasallo, María D, Domínguez-González, Cristina, Serrano, Pilar, On Behalf Of The Dm-Cm Working Group

“…Myotonic dystrophy type I (MDI) is the most common muscular dystrophy in adults. The main objectives of this study were to determine the prevalence of MDI in…”
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Resting state functional MRI reveals abnormal network connectivity in orthostatic tremor by Benito-León, Julián, Louis, Elan D., Manzanedo, Eva, Hernández-Tamames, Juan Antonio, Álvarez-Linera, Juan, Molina-Arjona, José Antonio, Matarazzo, Michele, Romero, Juan Pablo, Domínguez-González, Cristina, Domingo-Santos, Ángela, Sánchez-Ferro, Álvaro

“…Very little is known about the pathogenesis of orthostatic tremor (OT). We have observed that OT patients might have deficits in specific aspects of…”
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Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency by de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina

“…A 29-year-old man developed, since the age of 18, exercise intolerance and exercise-induced rhabdomyolysis, with myoglobinuria. Muscle biopsy showed ragged-red…”
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Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction by García-Bartolomé, Alberto, Peñas, Ana, Illescas, María, Bermejo, Verónica, López-Calcerrada, Sandra, Pérez-Pérez, Rafael, Marín-Buera, Lorena, Domínguez-González, Cristina, Arenas, Joaquín, Martín, Miguel A, Ugalde, Cristina

“…Mitochondrial oxidative phosphorylation (OXPHOS) defects are the primary cause of inborn errors of energy metabolism. Despite considerable progress on their…”
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A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation by De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio

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CMT4J, parkinsonism and a new FIG4 mutation by Posada, Ignacio J., Domínguez-González, Cristina

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Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations by Sonne, Alexander, Peverelli, Lorenzo, Hernandez-Lain, Aurelio, Domínguez-González, Cristina, Andersen, Jesper L, Milone, Margherita, Beggs, Alan H, Ochala, Julien

“…Congenital myopathies are a vast group of genetic muscle diseases. Among the causes are mutations in the gene resulting in truncated type IIa myosin heavy…”
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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events by Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, Gonzalez-Quereda, Lidia

“…Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing…”
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