Research

Applied research in neuromuscular diseases

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Publications

  • 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]

  • 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]

  • 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]

  • Cattinari MG, Pascual-Pascual SI, de Lemus M, Medina J, Dumont M, Rebollo P and Vázquez-Costa JF.

    Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.

    ORPHANET JOURNAL OF RARE DISEASES . 20(1): 274-274.

    [doi:10.1186/s13023-025-03832-y]

  • 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]

  • Osegui-Barcenilla N, Sendino M, Martín-González S, González-Moro I, Benito-Agustino A, Torres-Conde N, López-Martínez A, Jimenez-Mallebrera C, López-Marquez A and Arechavala-Gomeza V.

    Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): .

    [doi:10.1111/nan.70020]

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome

    CLINICAL GENETICS . 107(6): 646-662.

    [doi:10.1111/cge.14701]

  • 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 . : .

    [doi:10.1002/acn3.70088]

  • Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A.

    Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

    JOURNAL OF NEUROLOGY . 272(5): 331-331.

    [doi:10.1007/s00415-025-13042-y]