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Publicacions

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Nº de cites: 7

    [doi:10.3389/fnins.2022.784880]

  • Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, IFM, Nascimento-Osorio A, Nuutinen, M, Lindberg, C, Bindoff, LA, Tulinius, M, Darin, N and Sofou, K.

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Kidney Diseases . : 148-159. Nº de cites: 1

    [doi:10.1159/000521148]

  • Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.

    Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial

    LANCET NEUROLOGY . 21(1): 42-52. Nº de cites: 71

    [doi:10.1016/S1474-4422(21)00367-7]

  • Bertrán K, Sans-Capdevila O, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D and Iranzo de Riquer A.

    Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2

    SLEEP MEDICINE . 89: 85-89. Nº de cites: 2

    [doi:10.1016/j.sleep.2021.11.006]

  • Molera C, Sarishvili T, Nascimento-Osorio A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H and Lawlor MW.

    Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

    Journal of neuromuscular diseases . 9(1): 73-82. Nº de cites: 10

    [doi:10.3233/JND-210712]

  • Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento-Osorio A, Olivé M, Quan J, Sardina MD, Martí R and Paradas C.

    Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 407-407. Nº de cites: 2

    [doi:10.1186/s13023-021-02030-w]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Nº de cites: 8

    [doi:10.3390/genes12101590]

  • 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 cites: 6

    [doi:10.1093/clinchem/hvab091]

  • Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez-Gonzalez CI, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento-Osorio A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I and Díaz-Manera J.

    Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

    FRONTIERS IN NEUROLOGY . 12: 659922-659922. Nº de cites: 4

    [doi:10.3389/fneur.2021.659922]

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de cites: 3

    [doi:10.3390/ijms22105180]