Search Results - "DE MUNAIN, Adolfo López"

Oncogenicity of the Developmental Transcription Factor Sox9 by MATHEU, Ander, COLLADO, Manuel, SKOTHEIM, Rolf I, LOTHE, Ragnhild A, DE MUNAIN, Adolfo López, BRISCOE, James, SERRANO, Manuel, LOVELL-BADGE, Robin, WISE, Clare, MANTEROLA, Lorea, CEKAITE, Lina, TYE, Angela J, CANAMERO, Marta, BUJANDA, Luis, SCHEDL, Andreas, CHEAH, Kathryn S. E

“…SOX9 [sex-determining region Y (SRY)-box 9 protein], a high mobility group box transcription factor, plays critical roles during embryogenesis and its activity…”
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Targeting Myotonic Dystrophy Type 1 with Metformin by García-Puga, Mikel, Saenz-Antoñanzas, Ander, Matheu, Ander, López de Munain, Adolfo

“…Myotonic dystrophy type 1 (DM1) is a multisystemic disorder of genetic origin. Progressive muscular weakness, atrophy and myotonia are its most prominent…”
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Differential micro RNA expression in PBMC from multiple sclerosis patients by Otaegui, David, Baranzini, Sergio E, Armañanzas, Ruben, Calvo, Borja, Muñoz-Culla, Maider, Khankhanian, Puya, Inza, Iñaki, Lozano, Jose A, Castillo-Triviño, Tamara, Asensio, Ana, Olaskoaga, Javier, López de Munain, Adolfo

“…Differences in gene expression patterns have been documented not only in Multiple Sclerosis patients versus healthy controls but also in the relapse of the…”
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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations by Lasa-Elgarresta, Jaione, Mosqueira-Martín, Laura, Naldaiz-Gastesi, Neia, Sáenz, Amets, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara

“…Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the gene. It is characterized by…”
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia by Iruzubieta, Pablo, Pellerin, David, Bergareche, Alberto, Albajar, Inés, Mondragón, Elisabet, Vinagre, Ana, Fernández‐Torrón, Roberto, Moreno, Fermín, Equiza, Jon, Campo‐Caballero, David, Poza, Juan José, Ruibal, Marta, Formica, Alessandro, Dicaire, Marie‐Josée, Danzi, Matt C., Zuchner, Stephan, Croitoru, Ioana, Ruiz, Montserrat, Schlüter, Agatha, Casasnovas, Carlos, Pujol, Aurora, Brais, Bernard, Houlden, Henry, López de Munain, Adolfo, Ruiz‐Martínez, Javier

“…Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause…”
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Cancer phenotype in myotonic dystrophy patients: Results from a meta‐analysis by Emparanza, Jose I., López de Munain, Adolfo, Greene, Mark H., Matheu, Ander, Fernández‐Torrón, Roberto, Gadalla, Shahinaz M.

“…ABSTRACT Introduction: Recent studies have provided evidence that patients with myotonic dystrophy (DM) are at excess risk of cancer. However, inconsistencies…”
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Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related by Rico, Anabel, Guembelzu, Garazi, Palomo, Valle, Martínez, Ana, Aiastui, Ana, Casas-Fraile, Leire, Valls, Andrea, López de Munain, Adolfo, Sáenz, Amets

“…Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy produced by mutations in the CAPN3 gene. It is a rare…”
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Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation by Fernández-Torrón, Roberto, García-Puga, Mikel, Emparanza, José-Ignacio, Maneiro, Miren, Cobo, Ana-María, Poza, Juan-José, Espinal, Juan-Bautista, Zulaica, Miren, Ruiz, Irune, Martorell, Loreto, Otaegui, David, Matheu, Ander, López de Munain, Adolfo

“…OBJECTIVE:Describe the incidence of cancer in a large cohort of patients with myotonic dystrophy type 1 (DM1) and to unravel the underlying molecular…”
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Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression by Irizar, Haritz, Muñoz-Culla, Maider, Sepúlveda, Lucia, Sáenz-Cuesta, Matías, Prada, Álvaro, Castillo-Triviño, Tamara, Zamora-López, Gorka, López de Munain, Adolfo, Olascoaga, Javier, Otaegui, David

“…Although the most common clinical presentation of multiple sclerosis (MS) is the so called Relapsing-Remitting MS (RRMS), the molecular mechanisms responsible…”
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Muscle wasting in myotonic dystrophies: a model of premature aging by Mateos-Aierdi, Alba Judith, Goicoechea, Maria, Aiastui, Ana, Fernández-Torrón, Roberto, Garcia-Puga, Mikel, Matheu, Ander, López de Munain, Adolfo

“…Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and…”
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Kynurenic Acid Levels are Increased in the CSF of Alzheimer's Disease Patients by González-Sánchez, Marta, Jiménez, Javier, Narváez, Arantzazu, Antequera, Desiree, Llamas-Velasco, Sara, Martín, Alejandro Herrero-San, Arjona, Jose Antonio Molina, Munain, Adolfo López de, Bisa, Alberto Lleó, Marco, M-Pilar, Rodríguez-Núñez, Montserrat, Pérez-Martínez, David Andrés, Villarejo-Galende, Alberto, Bartolome, Fernando, Domínguez, Elena, Carro, Eva

“…Kynurenic acid (KYNA) is a product of the tryptophan (TRP) metabolism via the kynurenine pathway (KP). This pathway is activated in neurodegenerative…”
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G2019S LRRK2 mutant fibroblasts from Parkinson’s disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy by Yakhine-Diop, Sokhna M.S, Bravo-San Pedro, José M, Gómez-Sánchez, Rubén, Pizarro-Estrella, Elisa, Rodríguez-Arribas, Mario, Climent, Vicente, Aiastui, Ana, de Munain, Adolfo López, Fuentes, José M, González-Polo, Rosa A

“…Abstract Parkinson’s disease (PD) is a neurodegenerative disorder of unknown etiology. It is considered as a multifactorial disease dependent on environmental…”
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Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells by Gómez-Úriz, Ana M, Milagro, Fermín I, Mansego, María L, Cordero, Paúl, Abete, Itziar, De Arce, Ana, Goyenechea, Estíbaliz, Blázquez, Vanessa, Martínez-Zabaleta, Maite, Martínez, José Alfredo, López De Munain, Adolfo, Campión, Javier

“…Obesity and stroke are multifactorial diseases in which genetic, epigenetic and lifestyle factors are involved. The research aims were, first, the description…”
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain by Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa

“…Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of…”
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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics by Moreno, Fermin, Indakoetxea, Begoña, Barandiaran, Myriam, Caballero, María Cristina, Gorostidi, Ana, Calafell, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José F, López de Munain, Adolfo, Sánchez-Juan, Pascual, Lee, Suzee E

“…The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia…”
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Clinical and therapeutic features of myasthenia gravis in adults based on age at onset by Cortés-Vicente, Elena, Álvarez-Velasco, Rodrigo, Segovia, Sonia, Paradas, Carmen, Casasnovas, Carlos, Guerrero-Sola, Antonio, Pardo, Julio, Ramos-Fransi, Alba, Sevilla, Teresa, López de Munain, Adolfo, Gómez, Maria Teresa, Jericó, Ivonne, Gutiérrez-Gutiérrez, Gerardo, Pelayo-Negro, Ana Lara, Martín, María Asunción, Mendoza, María Dolores, Morís, Germán, Rojas-Garcia, Ricard, Díaz-Manera, Jordi, Querol, Luis, Gallardo, Eduard, Vélez, Beatriz, Albertí, María Antonia, Galán, Lucía, García-Sobrino, Tania, Martínez-Piñeiro, Alicia, Lozano-Veintimilla, Ana, Fernández-Torrón, Roberto, Cano-Abascal, Ángel, Illa, Isabel

“…OBJECTIVETo describe the characteristics of patients with very-late-onset myasthenia gravis (MG). METHODSThis observational cross-sectional multicenter study…”
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Acetylome in Human Fibroblasts From Parkinson's Disease Patients by Yakhine-Diop, Sokhna M S, Rodríguez-Arribas, Mario, Martínez-Chacón, Guadalupe, Uribe-Carretero, Elisabet, Gómez-Sánchez, Rubén, Aiastui, Ana, López de Munain, Adolfo, Bravo-San Pedro, José M, Niso-Santano, Mireia, González-Polo, Rosa A, Fuentes, José M

“…Parkinson's disease (PD) is a multifactorial neurodegenerative disorder. The pathogenesis of this disease is associated with gene and environmental factors…”
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Toxicity of Necrostatin-1 in Parkinson’s Disease Models by Alegre-Cortés, Eva, Muriel-González, Alicia, Canales-Cortés, Saray, Uribe-Carretero, Elisabet, Martínez-Chacón, Guadalupe, Aiastui, Ana, López de Munain, Adolfo, Niso-Santano, Mireia, Gonzalez-Polo, Rosa A., Fuentes, José M., Yakhine-Diop, Sokhna M. S.

“…Parkinson’s disease (PD) is a neurodegenerative disorder that is characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta. This…”
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The panniculus carnosus muscle: an evolutionary enigma at the intersection of distinct research fields by Naldaiz‐Gastesi, Neia, Bahri, Ola A., López de Munain, Adolfo, McCullagh, Karl J. A., Izeta, Ander

“…The panniculus carnosus is a thin striated muscular layer intimately attached to the skin and fascia of most mammals, where it provides skin twitching and…”
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Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study by Garmendia, Joana, Labayru, Garazi, Zulaica, Miren, Villanúa, Jorge, López de Munain, Adolfo, Sistiaga, Andone

“…Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations…”
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