People / Staff

MªDel Mar O'callaghan Gordo

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Publications

  • Tifft CJ, Batsu I, Giugliani R, Goyeau H, Hahn A, Jones SA, Minini P, Nakashima I, O'Callaghan-Gordo M, Perlman S, Thibault N, Kowthalam MU, Zheng R and Cox TM.

    Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials

    GENETICS IN MEDICINE . 28(1): 101615-101615. Number of citations: 1

    [doi:10.1016/j.gim.2025.101615]

  • Aranda S, Ribeiro J, Tristán-Noguero A, Moreno-Ruiz N, Arenas C, Calvo FFM, Ibañez-Mico S, Segura JLP, Ramos-Fernández JM, Del Carmen Moyano Chicano M, León RC, Soto-Insuga V, González-Alguacil E, Carlos Valera Dávila, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Del Pilar Martin-Tamayo Blázquez M, Paredes-Carmona F, Marti-Carrera I, Ginot-Julià G, Hernández-Fabián A, Davi MT, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan-Gordo M, Iglesias Santa Polonia FF, Cazorla MR, Lucas MTF, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Anna M, Cueto-González, Párraga FV, Campistol-Plana J, Serrano M, Xenia Alonso, Palafoll MIV, Monteagudo E, Alonso-Colmenero I, Sans-Capdevila O, Casals F, Cormand B, Garcia-Cazorla A, Bayés À and Mitjans M.

    Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.

    NEUROBIOLOGY OF DISEASE . : 107357-107357.

    [doi:10.1016/j.nbd.2026.107357]

  • Pons R, Pearson TS, Pérez-Dueñas B, Garcia-Cazorla A, Kurian MA, Dalivigka Z, Zouvelou V, Outsika C, Kokkinou E, Sigatullina M, Darling A, O'Callaghan-Gordo M, Spaull R, Steel DBD, Salamou E, Forjaz MJ and Rodriguez-Blazquez C.

    Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children

    MOVEMENT DISORDERS . 40(8): 1669-1679. Number of citations: 1

    [doi:10.1002/mds.30219]

  • Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.

    Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy

    Med . 6(4): 100544-100544. Number of citations: 5

    [doi:10.1016/j.medj.2024.10.021]

  • Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña L, Ruiz de Valbuena M and O'Callaghan-Gordo M.

    Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD Study.

    Revista clinica espanola . 225(2): 70-77.

    [doi:10.1016/j.rceng.2024.11.007]

  • Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T and Michalowsky B.

    Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension.

    Neurology and Therapy . 14(1): 379-398.

    [doi:10.1007/s40120-024-00694-7]

  • Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB and Reetz K.

    Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

    EUROPEAN JOURNAL OF NEUROLOGY . 32(1): .

    [doi:10.1111/ene.70011]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    DIAGNOSTICS . 15(1): . Number of citations: 2

    [doi:10.3390/diagnostics15010010]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 2

    [doi:10.1002/jimd.12805]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    Brain Communications . 7(5): . Number of citations: 2

    [doi:10.1093/braincomms/fcaf348]