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Publicacions

  • Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

    FRONTIERS IN NEUROLOGY . 11: 304-304. Nº de cites: 14

    [doi:10.3389/fneur.2020.00304]

  • Mercuri E, Muntoni F, Nascimento-Osorio A, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE and CINRG Duchenne Natural History Investigators.

    Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

    JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 9(5): 341-360. Nº de cites: 70

    [doi:10.2217/cer-2019-0171]

  • Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.

    Broadening the spectrum of neonatal hemochromatosis

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Nº de cites: 6

    [doi:10.1080/14767058.2018.1506442]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de cites: 41

    [doi:10.1002/jimd.12156]

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de cites: 19

    [doi:10.1186/s13023-020-1317-9]

  • Milisenda JC, García AM, Jou-Munoz C, Pinal-Fernandez I, O'Callaghan AS and Grau JM.

    Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining

    MEDICINA CLINICA . 153(11): 437-440. Nº de cites: 1

    [doi:10.1016/j.medcli.2019.04.022]

  • Girabent-Farrés M, Bagur-Calafat C, Amor-Barbosa M, Natera-de Benito D, Medina-Rincón A and Fagoaga J.

    Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents

    REVISTA DE NEUROLOGIA . 69(11): 442-452. Nº de cites: 2

    [doi:10.33588/rn.6911.2019235]

  • Lázaro-Simó AI, Vicente-Villa MA, Martin-González M, Jou-Munoz C and González-Enseñat MA.

    Adnexal polyp of neonatal skin: a forgotten diagnosis

    INTERNATIONAL JOURNAL OF DERMATOLOGY . 58(12): 1466-1467.

    [doi:10.1111/ijd.14394]

  • Bazaga A, Roldan-Molina M, Badosa-Gallego MC, Jimenez-Mallebrera C and Porta JM.

    A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies

    APPLIED SOFT COMPUTING . 85: 105772. Nº de cites: 5

    [doi:10.1016/j.asoc.2019.105772]

  • Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.

    Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

    SCIENTIFIC REPORTS . 9: 14036-14036. Nº de cites: 13

    [doi:10.1038/s41598-019-50415-6]