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Publicacions

  • 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): .

    [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. 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.

    [doi:10.1002/acn3.70088]

  • 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 . : .

    [doi:10.1093/jnen/nlaf083]

  • 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): .

    [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: 6

    [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]

  • Tresserra Casas F, Rosello Sastre E, Fernández Aceñero MJ, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro Fos S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva-Cepas F and Martínez Lorente A.

    Times and conditions of storage of samples in anatomic pathology. Recommendations of the Spanish Society of Anatomic Pathology (SEAP) part 1: samples for diagnosis

    Revista Espanola de Patologia . 57(4): 235-249. Nº de cites: 1

    [doi:10.1016/j.patol.2024.04.004]

  • Martínez Lorente A, Rosello Sastre E, Jesús Fernández Aceñero M, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva Cepas F and Tresserra Casas F.

    SEAP-IAP recommendations for the collection, storage and use of biological materials of human origin and related data intended for research. Generic biobank consideration and ethical-legal review (Part II)

    Revista Espanola de Patologia . 57(4): 250-257. Nº de cites: 1

    [doi:10.1016/j.patol.2024.04.005]