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Publicacions

  • Palau F.

    Fenotipos, genes y moléculas: la necesidad de investigar en enfermedades raras

    SEBBM. Sociedad Española de Bioquímica y Biología Molecular . 195: 12-16.

  • Olivares M, Walker AW, Capilla A, Benítez-Páez A, Palau F, Parkhill J, Castillejo G and Sanz Y.

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

    Microbiome . 6(1): 36-36. Nº de cites: 71

    [doi:10.1186/s40168-018-0415-6]

  • Mollá B, Muñoz-Lasso DC, Riveiro F, Bolinches-Amorós A, Pallardó FV, Fernandez-Vilata A, de la Iglesia-Vaya M, Palau F and Gonzalez-Cabo P.

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

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 10: 264-264. Nº de cites: 20

    [doi:10.3389/fnmol.2017.00264]

  • Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento-Osorio A, Ortez-Gonzalez CI, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho Díaz JA, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C and Sevilla T.

    Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

    SCIENTIFIC REPORTS . 7(1): 6677-6677. Nº de cites: 18

    [doi:10.1038/s41598-017-06894-6]

  • Vallmitjana A, Civera-Tregon A, Hoenicka J, Palau F and Benítez R.

    Motion estimation of subcellular structures from fluorescence microscopy images.

    2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2017: 4419-4422. Nº de cites: 3

    [doi:10.1109/EMBC.2017.8037836]

  • García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ and Pardo J.

    Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

    NEUROMUSCULAR DISORDERS . 27(7): 667-672. Nº de cites: 7

    [doi:10.1016/j.nmd.2017.01.008]

  • Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F and Cuezva JM.

    Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

    PLoS One . 12(6): . Nº de cites: 13

    [doi:10.1371/journal.pone.0178376]

  • González-Sánchez P, Pla-Martín D, Martínez-Valero P, Rueda CB, Calpena E, Del Arco A, Palau F and Satrústegui J.

    CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.

    SCIENTIFIC REPORTS . 7: 42993-42993. Nº de cites: 28

    [doi:10.1038/srep42993]

  • Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C and Sevilla T.

    Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation

    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY . 87(11): 1265-147. Nº de cites: 13

    [doi:10.1136/jnnp-2015-312890]

  • Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso DC, Palau F and González-Cabo P.

    Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia

    DISEASE MODELS & MECHANISMS . 9(6): 647-657. Nº de cites: 13

    [doi:10.1242/dmm.024273]