Research

Applied research in neuromuscular diseases

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Publications

  • Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodriguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Cascajo MV, Velasco I, Canals JM, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch-Iriberri R, Navas P and Menéndez P.

    Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells . 35(7): 1687-1703. Number of citations: 24

    [doi:10.1002/stem.2634]

  • González-Fernández S, Sabra S, Oltra M, Parra-Hernandez JA, Jou-Munoz C, Gonzalez-Bosquet E and Gómez-Roig MD.

    Case report of recurrent abdominal wall endometrioma at the same location after nine years of its first excision

    Journal of Fertilization: in vitro - IVF - Worldwide, Reproductive Mediicne, Genetics & Stem Cell Biology . 5: 1.

    [doi:10.4172/2375-4508.1000198]

  • Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento-Osorio A, Ortez-Gonzalez CI, Romero N, Palacios L, Jimenez-Mallebrera C, Jou-Munoz C, Gouveia S and Couce ML.

    Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    NEUROMUSCULAR DISORDERS . 27(2): 188-192. Number of citations: 29

    [doi:10.1016/j.nmd.2016.11.002]

  • Llano-Diez M, Ortez CI, Gay JA, Alvarez-Cabado L, Jou-Munoz C, Medina J, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

    NEUROMUSCULAR DISORDERS . 27(1): 15-23. Number of citations: 27

    [doi:10.1016/j.nmd.2016.11.003]

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Number of citations: 12

    [doi:10.1038/s41598-016-0008-1]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.

    Neuromuscular Manifestations in Mitochondria! Diseases in Children

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Number of citations: 6

    [doi:10.1016/j.spen.2016.11.004]

  • Figueras-Nart I, Vicente-Villa MA, Sánchez-Schmidt J, Jou-Munoz C, Bordas-Orpinell X, Celis-Passini VP, Cruz-Martínez O and González-Enseñat MA.

    Langerhans cell histiocytosis presenting as fingernail changes.

    JAAD case reports . 2(6): 485-487.

    [doi:10.1016/j.jdcr.2016.05.005]

  • Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento-Osorio A, Ortez-Gonzalez CI, Jaijo T, Arteaga R, Colomer J and Vilchez JJ.

    Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

    NEUROMUSCULAR DISORDERS . 26(11): 789-795. Number of citations: 17

    [doi:10.1016/j.nmd.2016.08.005]

  • Pascual-Pascual SI, Nascimento-Osorio A, Fernandez-Llamazares CM, Medrano-Lopez C, Villalobos-Pinto E, Martinez-Moreno M, Ley M, Manrique-Rodriguez S and Blasco-Alonso J.

    Clinical guidelines for infantile-onset Pompe disease

    REVISTA DE NEUROLOGIA . 63(6): 269-279. Number of citations: 9

    [doi:10.33588/rn.6306.2016232]

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Number of citations: 52

    [doi:10.1016/j.mito.2016.06.007]