Research

Neurogenetics and Molecular Medicine

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Publications

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Number of citations: 13

    [doi:10.3390/jcm8010068]

  • González-Domínguez I, Cervera L, Gòdia F and Roldan-Molina M.

    Quantitative colocalization analysis of DNA delivery by PEI-mediated cationic polymers in mammalian cells.

    JOURNAL OF MICROSCOPY . 273(1): 53-64. Number of citations: 13

    [doi:10.1111/jmi.12760]

  • Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

    Neuropediatrics . 49(6): 408-413. Number of citations: 4

    [doi:10.1055/s-0038-1673332]

  • 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. Number of citations: 32

    [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. Number of citations: 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. Number of citations: 61

    [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. Number of citations: 16

    [doi:10.1097/MCD.0000000000000237]

  • Favaro MTP, Serna N, Sánchez-García L, Cubarsi R, Roldan-Molina M, Sánchez-Chardi A, Unzueta U, Mangues R, Ferrer-Miralles N, Azzoni AR, Vázquez E and Villaverde A.

    Switching cell penetrating and CXCR4-binding activities of nanoscale-organized arginine-rich peptides.

    NANOMEDICINE-NANOTECHNOLOGY BIOLOGY AND MEDICINE . 14(6): 1777-1786. Number of citations: 10

    [doi:10.1016/j.nano.2018.05.002]

  • 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): . Number of citations: 7

    [doi:10.1371/journal.pone.0197254]

  • Rivas JL, Palencia T, Fernandez-Isern G and García M.

    Association of T and NK Cell Phenotype With the Diagnosis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).

    FRONTIERS IN IMMUNOLOGY . 9: 1028-1028. Number of citations: 36

    [doi:10.3389/fimmu.2018.01028]