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Neurogenètica i Medicina Molecular

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Publicacions

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Maynou-Fernández J, Fernandez-Isern G, Xiol C, Pascual-Alonso A, Pineda M and Armstrong-Moron J.

    The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(4): 609-620. Nº de cites: 24

    [doi:10.1016/j.ejpn.2019.04.006]

  • Pijuan-Marquilles J, Barceló C, Moreno DF, Maiques O, Sisó P, Marti RM, Macià A and Panosa A.

    In vitro Cell Migration, Invasion, and Adhesion Assays: From Cell Imaging to Data Analysis

    Frontiers in Cell and Developmental Biology . 7: 107-107. Nº de cites: 429

    [doi:10.3389/fcell.2019.00107]

  • Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan-Marquilles J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.

    CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de cites: 12

    [doi:10.1002/ajmg.a.61122]

  • Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, Ryten M, Koks S and International Parkinson’s Disease Genomics Consortium (IPDGC).

    Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset

    npj Parkinsons Disease . 5: 8-8. Nº de cites: 99

    [doi:10.1038/s41531-019-0080-x]

  • Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.

    AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    ANNALS OF NEUROLOGY . 85(5): 740-751. Nº de cites: 52

    [doi:10.1002/ana.25457]

  • Reynolds RH, Botía J, Nalls MA, Hardy J, Gagliano Taliun SA, Ryten M, International Parkinson’s Disease Genomics Consortium (IPDGC) and System Genomics of Parkinson’s Disease (SGPD).

    Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

    npj Parkinsons Disease . 5: 6-6. Nº de cites: 73

    [doi:10.1038/s41531-019-0076-6]

  • Mollá B, Muñoz-Lasso DC, Calap P, Fernández-Vilata A, de la Iglesia-Vaya M, Pallardó FV, Moltó MD, Palau F and González-Cabo P.

    Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model

    NEUROTHERAPEUTICS . 16(2): 432-449. Nº de cites: 9

    [doi:10.1007/s13311-018-00706-z]

  • Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.

    From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

    JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Nº de cites: 19

    [doi:10.1136/jmedgenet-2018-105588]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 29

    [doi:10.1038/s41598-018-37542-2]

  • Pascual-Pastó G, Bazan-Peregrino M, Gene-Olaciregui N, Restrepo-Perdomo CA, Mato-Berciano A, Ottaviani D, Weber K, Correa MG, Paco-Mercader S, Vilà-Ubach M, Cuadrado-Vilanova M, Castillo H, Botteri G, García-Gerique L, Moreno-Gilabert H, Gimenez-Alejandre M, Alonso-Lopez P, Farrera-Sal M, Torres-Manjon S, Ramos-Lozano D, Moreno R, Aerts I, Doz F, Cassoux N, Chapeaublanc E, Torrebadell-Burriel M, Roldan-Molina M, König A, Suñol M, Claverol J, Lavarino C, de Torres C, Fu L, Radvanyi F, Munier FL, Català-Mora J, Mora J, Alemany R, Cascallo M, Chantada G and Carcaboso AM.

    Therapeutic targeting of the RB1 pathway in retinoblastoma with the oncolytic adenovirus VCN-01

    SCIENCE TRANSLATIONAL MEDICINE . 11(476): 9321. Nº de cites: 81

    [doi:10.1126/scitranslmed.aat9321]