Recerca

Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de cites: 36

    [doi:10.3390/ijms19020619]

  • de Pinho Favaro MT, Sanchez-Garcia L, Sanchez-Chardi A, Roldan-Molina M, Unzueta U, Serna N, Cano-Garrido O, Azzoni AR, Ferrer-Miralles N, Villaverde A and Vazquez E.

    Protein nanoparticles are nontoxic, tuneable cell stressors.

    NANOMEDICINE . 13(3): 255-268. Nº de cites: 10

    [doi:10.2217/nnm-2017-0294]

  • Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.

    BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Nº de cites: 5

    [doi:10.1016/j.biopsych.2017.05.028]

  • Hector, RD, Kalscheuer, VM, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, TA, Armstrong-Moron J, Pineda M, Bailey, MES and Cobb, SR.

    CDKL5 variants: Improving our understanding of a rare neurologic disorder.

    NEUROLOGY-GENETICS . 3(6): 200. Nº de cites: 50

    [doi:10.1212/NXG.0000000000000200]

  • Unzueta U, Serna N, Sánchez-García L, Roldan-Molina M, Sánchez-Chardi A, Mangues R, Villaverde AV and Vázquez E.

    Engineering multifunctional protein nanoparticles by in vitro disassembling and reassembling of heterologous building blocks

    Nanotechnology . 28(50): 505102-505102. Nº de cites: 12

    [doi:10.1088/1361-6528/aa963e]

  • Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.

    Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

    MOVEMENT DISORDERS . 32(11): 1620-1630. Nº de cites: 15

    [doi:10.1002/mds.27129]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de cites: 19

    [doi:10.1038/s41598-017-11620-3]

  • Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de cites: 18

    [doi:10.1186/s13023-017-0707-0]

  • Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco MR, Chung WK, Dubois J, Lacour JP, Martorell-Sampol L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks DG, Dupont J, González-Enseñat MA, Frieden IJ, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quéré I, Salhi A, Turner AM, Vabres P, Vicente-Villa MA, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM and Vikkula M.

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Circulation . 136(11): 1037-1048. Nº de cites: 181

    [doi:10.1161/CIRCULATIONAHA.116.026886]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de cites: 15

    [doi:10.1007/s10545-017-0028-4]