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Publicaciones

  • Andrade-Campos M, Alfonso P, Irun P, Armstrong-Moron J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan-Gordo M, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M and Giraldo P.

    Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 84-84. Nº de citas: 24

    [doi:10.1186/s13023-017-0627-z]

  • Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.

    Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

    JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Nº de citas: 19

    [doi:10.1038/jhg.2016.104]

  • Lucariello M, Vidal E, Vidal-Falcó S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong-Moron J and Esteller M.

    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

    HUMAN GENETICS . 135(12): 1343-1354. Nº de citas: 54

    [doi:10.1007/s00439-016-1721-3]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Nº de citas: 40

    [doi:10.1371/journal.pone.0156359]

  • Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong-Moron J, Lázaro C and Esteller M.

    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

    GENETICS IN MEDICINE . 18(4): 378-385. Nº de citas: 33

    [doi:10.1038/gim.2015.100]

  • 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]

  • Cortés-Saladelafont E, Molero M, Ormazabal-Herrero A, Tristan-Noguero A, Sierra-March C, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.

    Diagnosis of Biogenic Amines Synthesis Defects

    Journal of Pediatric Neurology . 13(4): 186-197. Nº de citas: 2

    [doi:10.1055/s-0035-1558865]

  • Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong-Moron J, Sebastião AM, Gribnau J, Garcia-Cazorla A, Brüstle O, Henrique D, Cabral JM and Diogo MM.

    Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.

    BIOTECHNOLOGY JOURNAL . 10(10): 1578-1588. Nº de citas: 27

    [doi:10.1002/biot.201400751]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 15

    [doi:10.1586/14737159.2015.1062727]

  • Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong-Moron J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J and Ben-Zeev B.

    Epilepsy in Rett syndrome-Lessons from the Rett networked database

    Epilepsia . 56(4): 569-576. Nº de citas: 41

    [doi:10.1111/epi.12941]