Buscador de publicaciones


  • O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.

    New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

    Neurogenetics . 13(3): 245-250. Nº de citas: 16


  • Casado M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.

    Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

    Cerebellum . 11(2): 557-563. Nº de citas: 16


  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de citas: 7


  • Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.

    Genistein supplementation in patients affected by Sanfilippo disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de citas: 62


  • Velasco-Sánchez D, Aracil A, Montero-Sanchez R, Mas A, Jiménez L, O'Callaghan-Gordo M, Tondo M, Capdevila A, Blanch J, Artuch-Iriberri R and Pineda M.

    Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia

    Cerebellum . 10(1): 1-8. Nº de citas: 110


  • Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.

    Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    Mitochondrion . 10(5): 429-432. Nº de citas: 39


  • Pineda M, Montero-Sanchez R, Aracil A, O'Callaghan-Gordo M, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P and Artuch-Iriberri R.

    Coenzyme Q(10)-Responsive Ataxia: 2-Year-Treatment Follow-up

    MOVEMENT DISORDERS . 25(9): 1262-1268. Nº de citas: 30


  • Pineda M, Pérez-Poyato M S, O'Callaghan-Gordo M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J and Coll MJ.

    Clinical experience with miglustat therapy in pediatric patients with Niemann Pick disease type C: A case series

    MOLECULAR GENETICS AND METABOLISM . 99(4): 358-366. Nº de citas: 84


  • Roche A, Mora J, Perez Mdel M, Gean Molins E, Pérez-Dueñas B, O'Callaghan-Gordo M, Catala J, de Torres C, Cruz-Martínez O, Prat J and Parareda A.

    Axenfeld-Rieger Ocular Anomaly and Retinoblastoma Caused by Constitutional Chromosome 13q Deletion

    PEDIATRIC BLOOD & CANCER . 54(3): 480-482. Nº de citas: 2


  • Pineda M, R-Palmero A, Baquero M, O'Callaghan-Gordo M, Aracil A, van der Knaap M and Scheper GC.

    Vanishing white matter disease associated with progressive macrocephaly

    Neuropediatrics . 39(1): 29-32. Nº de citas: 5