Persones / Equip Humà

Francesc Palau Martínez

Buscador de publicacions

Publicacions

  • Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    HUMAN MUTATION . 39(12): 1752-1763. Nº de cites: 30

    [doi:10.1002/humu.23638]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de cites: 10

    [doi:10.1007/s10545-018-0224-x]

  • Olivares M, Benítez-Páez A, de Palma G, Capilla A, Nova E, Castillejo G, Varea V, Marcos A, Garrote JA, Polanco I, Donat E, Ribes-Koninckx C, Calvo C, Ortigosa L, Palau F and Sanz Y.

    Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study.

    Gut Microbes . 9(6): 551-558. Nº de cites: 60

    [doi:10.1080/19490976.2018.1451276]

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de cites: 16

    [doi:10.1097/MCD.0000000000000237]

  • Rubio-Solsona E, Martí S, Vílchez JJ, Palau F and Hoenicka J.

    ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism

    PLoS One . 13(5): . Nº de cites: 6

    [doi:10.1371/journal.pone.0197254]

  • Castro-Martinez X, García-Ruiz PJ, Martínez-García C, Martínez-Castrillo JC, Vela L, Mata M, Martínez-Torres I, Feliz-Feliz C, Palau F and Hoenicka J.

    Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants

    PARKINSONISM & RELATED DISORDERS . 49: 100-103. Nº de cites: 17

    [doi:10.1016/j.parkreldis.2018.01.010]

  • 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: 84

    [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: 6677-6677. Nº de cites: 21

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