Personas / Equipo Humano

MªDel Mar O'callaghan Gordo

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 1

    [doi:10.1016/j.gim.2025.101615]

  • 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. Nº de citas: 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. Nº de citas: 5

    [doi:10.1016/j.medj.2024.10.021]

  • 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]

  • 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]

  • 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]

  • 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): . Nº de citas: 1

    [doi:10.1093/braincomms/fcaf348]

  • 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): . Nº de citas: 2

    [doi:10.1002/jimd.12805]

  • 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): . Nº de citas: 2

    [doi:10.3390/diagnostics15010010]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451. Nº de citas: 3

    [doi:10.1093/clinchem/hvae139]