Resultados de procura - Francesc Palau

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  1. 1
    Autosomal recessive cerebellar ataxias

    Autosomal recessive cerebellar ataxias por Francesc Palau, Carmen Espinós

    Publicado 2006
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  2. 2
    Mitochondrial pathophysiology in Friedreich's ataxia

    Mitochondrial pathophysiology in Friedreich's ataxia por Pilar González‐Cabo, Francesc Palau

    Publicado 2013
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  3. 3
    Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

    Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism por Nermin S. Ahmed, Belén Mollá, David Pla‐Martín, Francesc Palau, Pilar González‐Cabo

    Publicado 2014
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  4. 4
    GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

    GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria por Laia Pedrola, Antonio Espert, Xingyao Wu, Reyes Claramunt, Michael E. Shy, Francesc Palau

    Publicado 2005
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  5. 5
    Frataxin interacts functionally with mitochondrial electron transport chain proteins

    Frataxin interacts functionally with mitochondrial electron transport chain proteins por Pilar González‐Cabo, Rafael P. Vázquez‐Manrique, María Adelaida García-Gimeno, Pascual Sanz, Francesc Palau

    Publicado 2005
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  6. 6
    Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

    Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway por Vincenzo Lupo, Máximo Ibo Galindo, Dolores Martínez‐Rubio, Teresa Sevilla, Juan J. Vílchez, Francesc Palau, Carmen Espinós

    Publicado 2009
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  7. 7
    Gut microbiota trajectory in early life may predict development of celiac disease

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

    Publicado 2018
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  8. 8
    Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot‐Marie‐Tooth type 4A disease

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

    Publicado 2007
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  9. 9
    Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease

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

    Publicado 2020
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  10. 10
    Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

    Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat por Eugènia Monrós, María Dolores Moltó, Francisco Martı́nez, Joaquı́n Cañizares, José Blanca, Juan J. Vílchez, F. Prieto, R. de Frutos, Francesc Palau

    Publicado 1997
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  11. 11
    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism por Dèlia Yubero, Núria Brandi, Aída Ormazábal, Àngels García‐Cazorla, Belén Pérez‐Dueñas, Jaime Campistol, Antònia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong

    Publicado 2016
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  12. 12
    Phenotypical features of the p.R120W mutation in the <i>GDAP1</i> gene causing autosomal dominant Charcot‐Marie‐Tooth disease

    Phenotypical features of the p.R120W mutation in the <i>GDAP1</i> gene causing autosomal dominant Charcot‐Marie‐Tooth disease por Rafael Sivera, Carmen Espinós, Juan J. Vílchez, Fernando Más, Dolores Martínez‐Rubio, María José Chumillas, F. Mayordomo, Nuria Muelas, Luís Bataller, Francesc Palau, Teresa Sevilla

    Publicado 2010
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  13. 13
    Coenzyme Q<sub>10</sub>‐responsive ataxia: 2‐year‐treatment follow‐up

    Coenzyme Q<sub>10</sub>‐responsive ataxia: 2‐year‐treatment follow‐up por Mercè Pineda, Raquel Montero, Asunción Aracil, M. Mar O’Callaghan, Ana Mas, Carmen Espinós, Dolores Martínez‐Rubio, Francesc Palau, Plácido Navas, Paz Briones, Rafael Artuch

    Publicado 2010
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  14. 14
    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling por Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean‐Jacques Médard, Fabienne Maurer, J. Beckmann, Jan Senderek, Francesc Palau, Carmen Espinós, Roman Chrast

    Publicado 2013
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  15. 15
    Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

    Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy por Teresa Sevilla, Teresa Jaijo, D. Nauffal, David Jimenez-Collado, María José Chumillas, Juan J. Vílchez, Nuria Muelas, Luís Bataller, Raquel Marín Domenech, Carmen Espinós, Francesc Palau

    Publicado 2008
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  16. 16
    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations por Dídac Casas‐Alba, Antonio Federico Martínez‐Monseny, Rosa Pino, Laia Alsina, Esperanza Castejón, Sergi Navarro-Vilarrubí, Belén Pérez‐Dueñas, Mercedes Serrano, Francesc Palau, Alfredo García‐Alix

    Publicado 2018
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  17. 17
    Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice

    Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice por Belén Mollá, Diana C. Muñoz-Lasso, Fátima Riveiro, Arantxa Bolinches-Amorós, Federico V. Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vayá, Francesc Palau, Pilar González‐Cabo

    Publicado 2017
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  18. 18
    Charcot-Marie-Tooth disease

    Charcot-Marie-Tooth disease por Rafael Sivera, Teresa Sevilla, Juan J. Vílchez, Dolores Martínez‐Rubio, María José Chumillas, Juan F. Vázquez‐Costa, Nuria Muelas, Luís Bataller, José M. Millán, Francesc Palau, Carmen Espinós

    Publicado 2013
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  19. 19
    The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease

    The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease por Marta Olivares, Alexander Neef, Gemma Castillejo, Giada De Palma, V. Varea, Amalia Capilla, Francesc Palau, Esther Nova, A. Marcos, Isabel Polanco, Carmen Ribes‐Koninckx, Luís Ortigosa, L. Izquierdo, Yolanda Sanz

    Publicado 2014
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  20. 20
    Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

    Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease por Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio, Paula Sancho, Rafael Sivera, María José Chumillas, Mar García-Romero, Samuel Ignacio Pascual Pascual, Nuria Muelas, Joaquı́n Dopazo, Juan J. Vílchez, Francesc Palau, Carmen Espinós

    Publicado 2015
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