Missense mutations have unexpected consequences: The McArdle disease paradigm von García‐Consuegra, Inés, Asensio‐Peña, Sara, Ballester‐Lopez, Alfonsina, Francisco‐Velilla, Rosario, Pinos, Tomás, Pintos‐Morell, Guillem, Coll‐Cantí, Jaume, González‐Quintana, Adrián, Andreu, Antoni L., Arenas, Joaquín, Lucia, Alejandro, Nogales‐Gadea, Gisela, Martín, Miguel A.

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The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I von Koehorst, Emma, Ballester-Lopez, Alfonsina, Arechavala-Gomeza, Virginia, Martinez-Pineiro, Alicia, Nogales-Gadea, Gisela

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Myotilinopathy unmasked by statin treatment: A case report von Ramos‐Fransi, Alba, Martínez‐Piñeiro, Alicia, Almendrote, Míriam, Lucente, Giuseppe, Carrato, Cristina, Ballester‐Lopez, Alfonsina, Lucia, Alejandro, Pintos‐Morell, Guillem, Nogales‐Gadea, Gisela, Coll‐Cantí, Jaume

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Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 von Koehorst, Emma, Nunez-Manchon, Judit, Ballester-Lopez, Alfonsina, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Chojnacki, Jakub, Vazquez-Manrique, Rafael P., Gomez-Escribano, Ana Pilar, Pintos-Morell, Guillem, Coll-Canti, Jaume, Ramos-Fransi, Alba, Martinez-Pineiro, Alicia, Suelves, Monica, Nogales-Gadea, Gisela

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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update von Santalla, Alfredo, Nogales-Gadea, Gisela, Encinar, Alberto Blázquez, Vieitez, Irene, González-Quintana, Adrian, Serrano-Lorenzo, Pablo, Consuegra, Inés García, Asensio, Sara, Ballester-Lopez, Alfonsina, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Pareja-Galeano, Helios, Díez-Bermejo, Jorge, Pérez, Margarita, Andreu, Antoni L, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel A, Lucia, Alejandro

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A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype von Ballester‐Lopez, Alfonsina, Koehorst, Emma, Almendrote, Miriam, Martínez‐Piñeiro, Alicia, Lucente, Giuseppe, Linares‐Pardo, Ian, Núñez‐Manchón, Judit, Guanyabens, Nicolau, Cano, Antoni, Lucia, Alejandro, Overend, Gayle, Cumming, Sarah A., Monckton, Darren G., Casadevall, Teresa, Isern, Irina, Sánchez‐Ojanguren, Josep, Planas, Albert, Rodríguez‐Palmero, Agustí, Monlleó‐Neila, Laura, Pintos‐Morell, Guillem, Ramos‐Fransi, Alba, Coll‐Cantí, Jaume, Nogales‐Gadea, Gisela

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A novel mutation in the valosin-containing-protein gene found in a Spanish family von Lucente, Giuseppe, Almendrote, Míriam, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Camaño, Pilar, Ballester-Lopez, Alfonsina, Lucia, Alejandro, Carrato, Cristina, Nogales-Gadea, Gisela, Coll-Cantí, Jaume

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Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins von Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Coenen, Daniëlle, Ara, Ignacio, Rodriguez-Lopez, Carlos, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Lucente, Giuseppe, Almendrote, Miriam, Coll-Cantí, Jaume, Pintos-Morell, Guillem, Santos-Lozano, Alejandro, Arenas, Joaquin, Martín, Miguel Angel, de Castro, Mauricio, Lucia, Alejandro, Santalla, Alfredo, Nogales-Gadea, Gisela

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Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins von Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Coenen, Daniëlle, Ara, Ignacio, Rodriguez-Lopez, Carlos, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Lucente, Giuseppe, Almendrote, Miriam, Coll-Cantí, Jaume, Pintos-Morell, Guillem, Santos-Lozano, Alejandro, Arenas, Joaquin, Martín, Miguel Angel, de Castro, Mauricio, Lucia, Alejandro, Santalla, Alfredo, Nogales-Gadea, Gisela

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Exercise and Preexercise Nutrition as Treatment for McArdle Disease von NOGALES-GADEA, GISELA, SANTALLA, ALFREDO, BALLESTER-LOPEZ, ALFONSINA, ARENAS, JOAQUÍN, MARTÍN, MIGUEL ANGEL, GODFREY, RICHARD, PINÍS, TOMÀS, PINTOS-MORELL, GUILLEM, COLL-CANTÍ, JAUME, LUCIA, ALEJANDRO

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Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 von Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Nunez-Manchon, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Puente, Carles, Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Pintos-Morell, Guillem, Coll-Canti, Jaume, Ramos-Fransi, Alba, Martinez-Pineiro, Alicia, Nogales-Gadea, Gisela

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Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease von Garcia-Consuegra, Ines, Blázquez, Alberto, Rubio, Juan Carlos, Arenas, Joaquín, Ballester-Lopez, Alfonsina, González-Quintana, Adrián, Andreu, Antoni L., Pinós, Tomàs, Coll-Cantí, Jaume, Lucia, Alejandro, Nogales-Gadea, Gisela, Martín, Miguel A.

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The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1 von Ballester-Lopez, Alfonsina, Linares-Pardo, Ian, Koehorst, Emma, Nunez-Manchon, Judit, Pintos-Morell, Guillem, Coll-Canti, Jaume, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Magana, Jonathan J., Murillo-Melo, Nadia M., Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Ramos-Fransi, Alba, Martinez-Pineiro, Alicia, Nogales-Gadea, Gisela

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Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype von Ballester-Lopez, Alfonsina, Núñez-Manchón, Judit, Koehorst, Emma, Linares-Pardo, Ian, Almendrote, Miriam, Lucente, Giuseppe, Guanyabens, Nicolau, Lopez-Osias, Marta, Suárez-Mesa, Adrián, Hanick, Shaliza Ann, Chojnacki, Jakub, Lucia, Alejandro, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Martínez-Piñeiro, Alicia, Ramos-Fransi, Alba, Nogales-Gadea, Gisela

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Myotonic Dystrophy Type 1: the heterogeneity of a complex disease in a global research approach von Ballester López, Alfonsina

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Myotonic Dystrophy Type 1: the heterogeneity of a complex disease in a global research approach von Ballester López, Alfonsina

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The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I von Koehorst, Emma, Ballester-Lopez, Alfonsina, Arechavala-Gomeza, Virginia, Martínez-Piñeiro, Alicia, Nogales, Gisela

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The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I von Koehorst, Emma, Ballester-Lopez, Alfonsina, Arechavala-Gomeza, Virginia, Martínez-Piñeiro, Alicia, Nogales, Gisela

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Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 von Koehorst, Emma, Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Almendrote, Míriam, Lucente, Giuseppe, Arbex, Andrea, Chojnacki, Jakub, Vázquez-Manrique, Rafael P, Gómez-Escribano, Ana Pilar, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Suelves Esteban, Mònica, Nogales, Gisela, Universitat Autònoma de Barcelona

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Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 von Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Míriam, Lucente, Giuseppe, Arbex, Andrea, Puente-Alonso, Carles, Lucia, Alejandro, Monckton, Darren G, Cumming, Sarah A, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales, Gisela, Universitat Autònoma de Barcelona. Departament de Medicina

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