Research

Applied research in neuromuscular diseases

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Publications

  • De Paepe B, Martin JJ, Herbelet S, Jimenez-Mallebrera C, Iglesias-Jimenez E, Jou-Munoz C, Weis J and De Bleecker JL.

    Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

    LABORATORY INVESTIGATION . 96(8): 872-884. Number of citations: 12

    [doi:10.1038/labinvest.2016.68]

  • Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

    METABOLIC BRAIN DISEASE . 31(3): 705-709. Number of citations: 7

    [doi:10.1007/s11011-015-9780-z]

  • Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelièvre A, Gartioux C, Allamand V, Piñol P, Rodríguez-García MA, Jimenez-Mallebrera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I and Díaz-Manera J.

    Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

    Journal of neuromuscular diseases . 3(2): 267-274. Number of citations: 6

    [doi:10.3233/JND-150135]

  • Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.

    Ndufs4 related Leigh syndrome: A case report and review of the literature

    Mitochondrion . 28: 73-78. Number of citations: 46

    [doi:10.1016/j.mito.2016.04.001]

  • Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Nascimento-Osorio A, McFarland R, Taylor RW, Holme E and Ostergaard E.

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 243-252. Number of citations: 69

    [doi:10.1007/s10545-015-9894-9]

  • Natera-de Benito D, Nascimento-Osorio A, Abicht A, Ortez-Gonzalez CI, Jou-Munoz C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J and Lochmüller H.

    KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

    JOURNAL OF NEUROLOGY . 263(3): 517-523. Number of citations: 29

    [doi:10.1007/s00415-015-8015-x]

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Number of citations: 127

    [doi:10.1371/journal.pone.0148709]

  • Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez-Gonzalez CI, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J and Nascimento-Osorio A.

    Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

    NEUROMUSCULAR DISORDERS . 26(2): 153-159. Number of citations: 31

    [doi:10.1016/j.nmd.2015.10.013]

  • Melé-Ninot, G., Vicente-Villa MA, Jou-Munoz C, González V and González-Enseñat MA.

    Panniculitis secondary to treatment with interferon beta in patients with multiple sclerosis. A case report and literature review

    Piel . 31(10): 680-684.

    [doi:10.1016/j.piel.2016.04.019]

  • Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.

    A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

    Mitochondrion . 26: 72-80. Number of citations: 19

    [doi:10.1016/j.mito.2015.12.004]