Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Nascimento-Osorio A and Villalobos-Pinto E.

    A new phenotype of infantile-onset Pompe disease

    REVISTA DE NEUROLOGIA . 66(4): 121-124. Nº de citas: 1

    [doi:10.33588/rn.6604.2017492]

  • Soria Gondek A, Julià V, Jou-Munoz C, Salvador-Hernandez H, Rovira-Zurriaga C and Tarrado X.

    Adolescent Hydrocele Carrying a Surprise: A Case of Papillary Cystadenoma of the Epididymis

    UROLOGY . 112: 172-175. Nº de citas: 3

    [doi:10.1016/j.urology.2017.10.040]

  • Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez-Gonzalez CI, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho Díaz JA, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H and Nascimento-Osorio A.

    Molecular characterization of congenital myasthenic syndromes in Spain

    NEUROMUSCULAR DISORDERS . 27(12): 1087-1098. Nº de citas: 48

    [doi:10.1016/j.nmd.2017.08.003]

  • 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. Nº de citas: 52

    [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(1): 12288-12288. Nº de citas: 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. Nº de citas: 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. Nº de citas: 4

    [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. Nº de citas: 4

    [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. Nº de citas: 21

    [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. Nº de citas: 24

    [doi:10.1002/stem.2634]