檢索結果 - Palau, Francesc

Determinants for research on rare diseases 由 Palau, Francesc

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Autosomal recessive cerebellar ataxias 由 Palau, Francesc, Espinós, Carmen

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Neural and Molecular Features on Charcot-Marie-Tooth Disease Plasticity and Therapy 由 Juárez, Paula, Palau, Francesc

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Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency 由 Gonzalez-Cabo, Pilar, Ros, Sheila, Palau, Francesc

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Molecular Modelling Hurdle in the Next-Generation Sequencing Era 由 Fernandez, Guerau, Yubero, Dèlia, Palau, Francesc, Armstrong, Judith

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Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species 由 Calpena, Eduardo, Palau, Francesc, Espinós, Carmen, Galindo, Máximo Ibo

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Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease 由 González-Sánchez, Paloma, Satrústegui, Jorgina, Palau, Francesc, del Arco, Araceli

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Charcot-Marie-Tooth-related Gene GDAP1 Complements Cell Cycle Delay at G(2)/M Phase in Saccharomyces cerevisiae fis1 Gene-defective Cells 由 Estela, Anna, Pla-Martín, David, Sánchez-Piris, Maribel, Sesaki, Hiromi, Palau, Francesc

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ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism 由 Rubio-Solsona, Estrella, Martí, Salvador, Vílchez, Juan J., Palau, Francesc, Hoenicka, Janet

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Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism 由 Rubio-Solsona, Estrella, Martí, Salvador, Vílchez, Juan J., Palau, Francesc, Hoenicka, Janet

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Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism 由 Bolinches-Amorós, Arantxa, Mollá, Belén, Pla-Martín, David, Palau, Francesc, González-Cabo, Pilar

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Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich’s ataxia 由 Mollá, Belén, Riveiro, Fátima, Bolinches-Amorós, Arantxa, Muñoz-Lasso, Diana C., Palau, Francesc, González-Cabo, Pilar

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Gut microbiota trajectory in early life may predict development of celiac disease 由 Olivares, Marta, Walker, Alan W., Capilla, Amalia, Benítez-Páez, Alfonso, Palau, Francesc, Parkhill, Julian, Castillejo, Gemma, Sanz, Yolanda

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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease 由 Pedrola, Laia, Espert, Antonio, Valdés-Sánchez, Teresa, Sánchez-Piris, Maribel, Sirkowski, Erich E, Scherer, Steven S, Fariñas, Isabel, Palau, Francesc

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Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease 由 Cantarero, Lara, Juárez-Escoto, Elena, Civera-Tregón, Azahara, Rodríguez-Sanz, María, Roldán, Mónica, Benítez, Raúl, Hoenicka, Janet, Palau, Francesc

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Differential Expression of PGC-1α and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia Fibroblasts 由 García-Giménez, José Luis, Gimeno, Amparo, Gonzalez-Cabo, Pilar, Dasí, Francisco, Bolinches-Amorós, Arantxa, Mollá, Belén, Palau, Francesc, Pallardó, Federico V.

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Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans 由 González-Cabo, Pilar, Bolinches-Amorós, Arantxa, Cabello, Juan, Ros, Sheila, Moreno, Sergio, Baylis, Howard A., Palau, Francesc, Vázquez-Manrique, Rafael P.

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CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration 由 González-Sánchez, Paloma, Pla-Martín, David, Martínez-Valero, Paula, Rueda, Carlos B., Calpena, Eduardo, del Arco, Araceli, Palau, Francesc, Satrústegui, Jorgina

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Cofilin dysregulation alters actin turnover in frataxin-deficient neurons 由 Muñoz-Lasso, Diana C., Mollá, Belén, Calap-Quintana, Pablo, García-Giménez, José Luis, Pallardo, Federico V., Palau, Francesc, Gonzalez-Cabo, Pilar

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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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