People / Staff

Cristina Jou Muñoz

Search publications

Publications

  • Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.

    Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy , retinal dystrophy, juvenile cataracts, and microcephaly

    GENETICS IN MEDICINE . 28(5): 102558-102558.

    [doi:10.1016/j.gim.2026.102558]

  • 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. Number of citations: 2

    [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]

  • Schneider B, Redwanz C, Celis-Passini V, Esperanza-Cebollada E, Montesdeoca S, Salaverria I, Planas-Roman S, Conde N, Camós-Guijosa M, Arnau R, Lopez-Guillermo A, Maletzki C, Jou-Munoz C, Erbersdobler A, Shokraie O, Meyer-Bahlburg A, Ballmann M, Mora J, ELENA CAMPO, Classen CF and Cardesa-Salzmann TM.

    miRNA profiling in pediatric and young adult Burkitt leukemia and lymphoma

    VIRCHOWS ARCHIV . : .

    [doi:10.1007/s00428-026-04426-0]

  • 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]

  • Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.

    Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

    JOURNAL OF CLINICAL INVESTIGATION . 135(19): . Number of citations: 5

    [doi:10.1172/JCI193107]

  • 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. Number of citations: 2

    [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. Number of citations: 2

    [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. Number of citations: 1

    [doi:10.1002/acn3.70078]