Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 28

    [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 citas: 9

    [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 citas: 53

    [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 citas: 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. Nº de citas: 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): . Nº de citas: 5

    [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. Nº de citas: 26

    [doi:10.3389/fimmu.2018.01028]

  • Fortea A, Ilzarbe D, Espinosa L, Solerdelcoll M, Castro-Martinez X, Oriolo G, Sugranyes G and Baeza I.

    Long-Acting Injectable Atypical Antipsychotic Use in Adolescents: An Observational Study.

    JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY . 28(4): 252-257. Nº de citas: 19

    [doi:10.1089/cap.2017.0096]

  • 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 citas: 15

    [doi:10.1016/j.parkreldis.2018.01.010]