Research

Applied research in neuromuscular diseases

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Publications

  • Casas-Alba D, Fernández de Sevilla-Estrach M, Valero-Rello A, Fortuny-Guasch C, García-García JJ, Ortez-Gonzalez CI, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Luaces-Cubells C, Barrabeig I, González-Sanz R, Cabrerizo M, Munoz-Almagro C and Launes-Montana C.

    Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia

    CLINICAL MICROBIOLOGY AND INFECTION . 23(11): 874-881. Number of citations: 58

    [doi:10.1016/j.cmi.2017.03.016]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    SCIENTIFIC REPORTS . 7: 12288-12288. Number of citations: 19

    [doi:10.1038/s41598-017-11620-3]

  • McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Nascimento-Osorio A, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group and ACT DMD Study Group.

    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Lancet . 390(10101): 1489-1498. Number of citations: 339

    [doi:10.1016/S0140-6736(17)31611-2]

  • Bestue-Cardiel M and Natera-de Benito D.

    Current status of congenital myasthenic syndromes

    REVISTA DE NEUROLOGIA . 65(4): 161-176. Number of citations: 5

    [doi:10.33588/rn.6504.2016423]

  • Rodríguez-García MA, Del Rio-Baquero LM, Ortez-Gonzalez CI, Jou-Munoz C, Vigo-Morancho M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive-Valls M, González-Mera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

    FRONTIERS IN AGING NEUROSCIENCE . 9: 268-268. Number of citations: 5

    [doi:10.3389/fnagi.2017.00268]

  • Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento-Osorio A, Ortez-Gonzalez CI, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho Díaz JA, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C and Sevilla T.

    Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    SCIENTIFIC REPORTS . 7: 6677-6677. Number of citations: 22

    [doi:10.1038/s41598-017-06894-6]

  • 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]

  • Domínguez-Carral J, López-Pisón, J, Alfons Macaya, Campaña, MB, García-Pérez, MA and Natera-de Benito D.

    Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 60(2): 124-129. Number of citations: 16

    [doi:10.1016/j.ejmg.2016.11.007]

  • 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: 32

    [doi:10.1016/j.nmd.2016.11.002]