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Publicaciones

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

    CLINICAL GENETICS . 101(5-6): 481-493.

    [doi:10.1111/cge.14113]

  • Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Alfons Macaya, Pujol A and GWMD working group.

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

    Neurology . 98(9): 912-923.

    [doi:10.1212/WNL.0000000000013278]

  • Migliorelli C, Medina-Rivera IF, Bachiller A, Tost A, Alonso Lopez JF, López-Sala A, Armstrong-Moron J, O'Callaghan-Gordo M, Pineda M, Mañanas MA, Romero S and Garcia-Cazorla A.

    Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.

    J INTELL DISABIL RES . 66(3): 213-224.

    [doi:10.1111/jir.12902]

  • Paredes-Fuentes AJ, Cesar S, Montero-Sanchez R, Latre C, Genovés-Escarre J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Nº de citas: 1

    [doi:10.1016/j.biopha.2021.112143]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.

    PARKINSONISM & RELATED DISORDERS . 91: 19-22.

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Tenorio-Castaño J, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martinez-Monseny T, O'Callaghan-Gordo M, Álvarez S, Stolerman ES, Washington C, Ramos FJ, Consortium TS and Lapunzina P.

    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    CLINICAL GENETICS . 100(4): 405-411.

    [doi:10.1111/cge.14020]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de citas: 1

    [doi:10.1093/clinchem/hvab091]

  • Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.

    LANCET NEUROLOGY . 20(5): 362-372. Nº de citas: 8

    [doi:10.1016/S1474-4422(21)00027-2]

  • Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

    Biomedicines . 9(2): 148.

    [doi:10.3390/biomedicines9020148]

  • De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ and Mancuso M.

    Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 800-818. Nº de citas: 12

    [doi:10.1002/jimd.12196]