Persones / Equip Humà

MªDel Mar O'callaghan Gordo

Buscador de publicacions

Publicacions

  • 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 . : .

    [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 cites: 1

    [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]

  • Julià-Palacios NA, Munoz-Pujol, Gerard, Maroofian, Reza, Bertoli-Avella, Aida M, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, Abraham J, O'Callaghan-Gordo M, Machado-Casas, Irene S, Cristian, Ingrid, Morrison, Jennifer, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, Mohammad, Zonic, Emir, Bauer, Peter, Cheema, Huma, Anjum, Muhammad Nadeem, Al-Sannaa, Nouriya, Abd Elmaksoud, Marwa, Ababneh, Faroug, Alijanpour, Sahar, Tonekaboni, Seyed Hassan, Fayazi, Afshin, Urbaniak, Maria, Barba, Uxia, Hoenicka J, Palau F, Houlden, Henry, Ortigoza-Escobar JD, Ribes, Antonia, Santos-Ocana, Carlos, Tyler, Millie, Gaffney, Patrick, Carroll, Christopher J, Tort, Frederic, Wierenga, Klaas J, Webb, Bryn D, Artuch-Iriberri R, Baide-Mairena, Heidy and Urreizti R.

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

    brain communications . 7(5): .

    [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 cites: 1

    [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 cites: 1

    [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 cites: 2

    [doi:10.1093/clinchem/hvae139]

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511. Nº de cites: 5

    [doi:10.1016/j.ymgme.2024.108511]

  • Illescas S, Díaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Nº de cites: 3

    [doi:10.1002/jimd.12689]

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I.

    Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Frontiers in Cell and Developmental Biology . 12: 1321282-1321282. Nº de cites: 4

    [doi:10.3389/fcell.2024.1321282]