检索结果 - Nascimento, Andrés

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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