Research

Applied research in neuromuscular diseases

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Publications

  • Tizzano E, Lindner G, Chilcott E, Finkel RS and Yáñez-Muñoz RJ.

    In utero therapy for spinal muscular atrophy: closer to clinical translation.

    BRAIN . 148(9): 3043-3056. Number of citations: 2

    [doi:10.1093/brain/awaf123]

  • 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 . 148(9): 3215-3227.

    [doi:10.1093/brain/awaf116]

  • Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.

    The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

    Computers in biology and medicine . 196(Pt A): 110610-110610.

    [doi:10.1016/j.compbiomed.2025.110610]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]

  • 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]

  • Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.

    Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

    Journal of neuromuscular diseases . : .

    [doi:10.1177/22143602251361190]

  • 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]

  • García-Fernández A, Couce-Sánchez M, Andreo-Jover J, Ayad-Ahmed W, Bobes Bascarán MT, Bot MA, Canal Rivero M, Cebria AI, Crespo-Facorro B, Diaz-Marsá M, Fernández-Rodrigues V, Gómez-Vallejo S, González-Pinto A, Grande I, Iglesias Gutiérrez N, Jiménez-Treviño L, López-Pena P, Palao DJ, Palao-Tarrero Á, Pedrola-Pons A, Ruiz-Veguilla M, Suarez-Soto E, de la Torre-Luque A, Zorrilla I, Pérez V and Sáiz PA.

    Efficacy of a brief psychological intervention for adolescents with recent suicide attempt. A randomised clinical trial.

    EUROPEAN PSYCHIATRY . 68(1): 1-32.

    [doi:10.1192/j.eurpsy.2025.10065]

  • 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]

  • Bouchikh-El Jarroudi R, Roche Fernández K, Casas-Gimeno E, González-Valdivia H, Ortez-Gonzalez CI, Roche D, Prat-Bartomeu J and Videla S.

    Blepharospasm management in Schwartz-Jampel syndrome: A systematic review.

    European Journal of Ophthalmology . : .

    [doi:10.1177/11206721251348991]