Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 74

    [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. Nº de citas: 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): . Nº de citas: 136

    [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. Nº de citas: 32

    [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. Nº de citas: 19

    [doi:10.1016/j.mito.2015.12.004]

  • Mariño-Sánchez, F., Lopez-Chacon, M., Jou-Munoz C and Haag, O..

    Pediatric intranasal lobular capillary hemangioma: Report of two new cases and review of the literature

    Respiratory Medicine Case Reports . 18: 31-34. Nº de citas: 7

    [doi:10.1016/j.rmcr.2016.03.009]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Nº de citas: 19

    [doi:10.1186/s13023-015-0376-9]

  • Paco-Mercader S, Casserras T, Rodríguez-García MA, Jou-Munoz C, Puigdelloses M, Ortez-Gonzalez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento-Osorio A, Kalko SG and Jimenez-Mallebrera C.

    Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

    PLoS One . 10(12): . Nº de citas: 25

    [doi:10.1371/journal.pone.0145107]

  • Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez-Gonzalez CI, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM and Garcia-Cazorla A.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1059-1074. Nº de citas: 181

    [doi:10.1007/s10545-015-9840-x]