Buscador de publicacions

Publicacions

  • Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN and Taylor RW.

    OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

    EMBO Molecular Medicine . 10(11): 9060-9060. Nº de cites: 48

    [doi:10.15252/emmm.201809060]

  • San Millan B and Jou-Munoz C.

    Histopathology in HCM.

    Global cardiology science & practice . 2018(3): 20-20.

    [doi:10.21542/gcsp.2018.20]

  • Deyà-Martinez A, Esteve-Solé A, Vélez-Tirado N, Celis-Passini V, Costa-Colomer J, Cols M, Jou-Munoz C, Vlagea A, Plaza-Martín AM, Juan-Otero M and Alsina L.

    Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells

    PEDIATRIC ALLERGY AND IMMUNOLOGY . 29(4): 425-432. Nº de cites: 25

    [doi:10.1111/pai.12890]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de cites: 4

    [doi:10.33588/rn.6607.2017498]

  • 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 cites: 2

    [doi:10.1016/j.urology.2017.10.040]

  • 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 cites: 4

    [doi:10.3389/fnagi.2017.00268]

  • 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 cites: 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. Nº de cites: 25

    [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. Nº de cites: 23

    [doi:10.1016/j.nmd.2016.11.003]