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Neurogenètica i Medicina Molecular

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Publicacions

  • 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: 46

    [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: 63

    [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: 14

    [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: 26

    [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: 63

    [doi:10.1126/scitranslmed.aat9321]

  • González-Sánchez P, Satrústegui J, Palau F and Del Arco A.

    Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(2): . Nº de cites: 19

    [doi:10.3390/ijms20020403]

  • Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez-Monseny T, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R and Morava E.

    International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 5-28. Nº de cites: 82

    [doi:10.1002/jimd.12024]

  • 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): . Nº de cites: 12

    [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. Nº de cites: 10

    [doi:10.1111/jmi.12760]