Результаты поиска - Nascimento, Andrés

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about по Rodrigues, Filipa, Grenha, Joana, Ortez, Carlos, Nascimento, Andrés, Morte, Beatriz, M-Belinchón, Monica, Armstrong, Judith, Colomer, Jaume

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Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue по Raymond, Frederic, Métairon, Sylviane, Kussmann, Martin, Colomer, Jaume, Nascimento, Andres, Mormeneo, Emma, García-Martínez, Cèlia, Gómez-Foix, Anna M

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations по Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia

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5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes по Calpena, Eduardo, Casado, Mercedes, Martínez-Rubio, Dolores, Nascimento, Andrés, Colomer, Jaume, Gargallo, Eva, García-Cazorla, Angels, Palau, Francesc, Artuch, Rafael, Espinós, Carmen

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Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child по Carrera-García, Laura, Natera-de Benito, Daniel, Lleixà, Cinta, Ortez, Carlos, Colomer, Jaume, Nascimento, Andrés, Saiz, Albert, Dalmau, Josep, Querol, Luis, Armangué, Thaís

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PGC-1α Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells по Mormeneo, Emma, Jimenez-Mallebrera, Cecilia, Palomer, Xavier, De Nigris, Valeria, Vázquez-Carrera, Manuel, Orozco, Anna, Nascimento, Andrés, Colomer, Jaume, Lerín, Carles, Gómez-Foix, Anna M.

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Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy по Trifunov, Selena, Natera-de Benito, Daniel, Exposito Escudero, Jesica Maria, Ortez, Carlos, Medina, Julita, Cuadras, Daniel, Badosa, Carmen, Carrera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia

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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases по Yubero, Dèlia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernàndez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Mònica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc

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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency по 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

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Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases по Pijuan, Jordi, Cantarero, Lara, Natera-de Benito, Daniel, Altimir, Arola, Altisent-Huguet, Anna, Díaz-Osorio, Yaiza, Carrera-García, Laura, Expósito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc

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Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies по Almici, Enrico, Chiappini, Vanessa, López-Márquez, Arístides, Badosa, Carmen, Blázquez, Blanca, Caballero, David, Montero, Joan, Natera-de Benito, Daniel, Nascimento, Andrés, Roldán, Mònica, Lagunas, Anna, Jiménez-Mallebrera, Cecilia, Samitier, Josep

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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts по López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation по Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability по Rodríguez, M. A., Del Rio Barquero, Luís M., Ortez, Carlos I., Jou, Cristina, Vigo, Meritxell, Medina, Julita, Febrer, Anna, Ramon-Krauel, Marta, Diaz-Manera, Jorge, Olive, Montse, González-Mera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia

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CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings по Martínez-Monseny, Antonio F., Edo, Albert, Casas-Alba, Dídac, Izquierdo-Serra, Mercè, Bolasell, Mercè, Conejo, David, Martorell, Loreto, Muchart, Jordi, Carrera, Laura, Ortez, Carlos I., Nascimento, Andrés, Oliva, Baldo, Fernández-Fernández, José M., Serrano, Mercedes

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Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report по Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J., Miller, Weston, Sepulveda, Bryan, Kamath, Binita M., Meng, Hui, Lawlor, Michael W.

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Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets по Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia

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Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets по Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia

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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes по Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia

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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein по Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia

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