Research

Applied research in neuromuscular diseases

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Publications

  • 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. Number of citations: 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. Number of citations: 46

    [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. Number of citations: 24

    [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. Number of citations: 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. Number of citations: 2

    [doi:10.33588/rn.6911.2019235]

  • 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. Number of citations: 5

    [doi:10.1016/j.asoc.2019.105772]

  • 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]

  • 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. Number of citations: 15

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

  • Muntoni F, Desguerre I, Guglieri M, Nascimento-Osorio A, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL and Mercuri E.

    Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

    JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 8(14): 1187-1200. Number of citations: 23

    [doi:10.2217/cer-2019-0086]

  • Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.

    A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Number of citations: 10

    [doi:10.1016/j.seizure.2019.07.019]