Personas / Equipo Humano

Cristina Jou Muñoz

Buscador de publicaciones

Publicaciones

  • Paco-Mercader S, Ferrer I, Jou-Munoz C, Cusi V, Corbera J, Torner-Rubies F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling

    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Nº de citas: 23

    [doi:10.1097/NEN.0b013e31826c6f7b]

  • 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: 18

    [doi:10.1007/s10048-012-0322-0]

  • Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.

    Perfil de expresión génica en la distrofia muscular congénita de Ullrich

    REVISTA DE NEUROLOGIA . 2012(27): 155-312.

  • 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 1,203 Procedures".

    Ophthalmology . : .

    [doi:10.1016/j.ophtha.2025.03.018]

  • 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 C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, 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 H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé 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 . : .

    [doi:10.1093/brain/awaf116]