Persones / Equip Humà

Cristina Jou Muñoz

Buscador de publicacions

Publicacions

  • Chigane D, Pandya D, Singh M, Brown B, Lin M, Xu L, Stacey AW, Bonnell AC, Hubbard GB 3rd, Grossniklaus H, Skalet AH, Bellsmith KN, Lally SE, Simão-Rafael M, Jou-Munoz C, Català-Mora J, Malaise D, Lumbroso-Le Rouic L, Matet A, Chantada G, Cassoux N, Shields CL and Berry JL.

    Safety Assessment of Aqueous Humor Liquid Biopsy in Retinoblastoma: A Multicenter Study of 1203 Procedures.

    OPHTHALMOLOGY . 133(3): 326-332.

    [doi:10.1016/j.ophtha.2025.03.018]

  • Chong AS, Roca C, Morales-Sánchez P, Dorca E, Barea V, Ruz-Caracuel I, Valderrabano P, Rovira-Zurriaga C, Jou-Munoz C, Bouron-Dal Soglio D, Chernock RD, Torrezan GT, Pusztaszeri M, Cameselle-Teijeiro JM, Matias-Guiu X, Alvarez CV, Salvador-Hernandez H, Wasserman JD, Leandro-García LJ, Foulkes WD, Andrés-León E, Casano-Sancho P and Rivera B.

    Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions

    JCI Insight . 11(3): .

    [doi:10.1172/jci.insight.198338]

  • Severa, G, Bastu, S, Borin, GU, Decrouy, X, Codina-Bergadà A, Kefi, K, Periou, B, Nadaj-Pakleza, A, Lannes, B, Sacconi, S, Maurage, CA, Tard, C, Jou-Munoz C, Nascimento-Osorio A, Taglietti, V and Malfatti, E.

    Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 85(1): 84-92.

    [doi:10.1093/jnen/nlaf083]

  • Luo Y, Argüello G, Acevedo D, Jou-Munoz C, Codina-Bergadà A, Márquez-Pereira JM, Vlagea A, Peiró S, Bolaño V, Freixedas A, Deyà-Martinez A, García-García AP, Martí-Castellote C, Juan-Otero M, Esteve-Solé A and Alsina L.

    Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood

    JOURNAL OF CLINICAL IMMUNOLOGY . 46(1): 13-13.

    [doi:10.1007/s10875-025-01955-2]

  • Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

    BRAIN . 148(9): 3215-3227. Nº de cites: 1

    [doi:10.1093/brain/awaf116]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547. Nº de cites: 1

    [doi:10.1002/acn3.70088]

  • Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Annals of Clinical and Translational Neurology . 12(7): 1465-1479.

    [doi:10.1002/acn3.70078]

  • Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.

    MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): . Nº de cites: 3

    [doi:10.1111/nan.70025]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de cites: 8

    [doi:10.1038/s41431-024-01699-4]

  • Baulenas-Farrés M, Paco-Mercader S, Marino F, Mohr J, Panisello C, Balaguer-Lluna L, Aschero MR, Cuadrado-Vilanova M, Resa-Parés C, Rodriguez E, Márquez-Pereira JM, Menéndez P, Jou-Munoz C, Benítez R, Benitez-Ribas D, Lavarino C, Mora J and Carcaboso AM.

    Proteins of the cancer cell secretome induce the protumoral microenvironment of diffuse intrinsic pontine glioma

    Neuro-Oncology Advances . 7(1): .

    [doi:10.1093/noajnl/vdaf132]