Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Izquierdo-Renau M, Martinez-Monseny T, Pociello N, Gonzalez P, del Río-Florentino R, Iriondo-Sanz M and Iglesias-Platas I.

    Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low-Birth-Weight Infants

    NUTRITION IN CLINICAL PRACTICE . 31(5): 666-672. Nº de citas: 8

    [doi:10.1177/0884533616649582]

  • Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell-Sampol L, Otaegui D, Matheu A and López de Munain A.

    Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

    Neurology . 87(12): 1250-1257. Nº de citas: 37

    [doi:10.1212/WNL.0000000000003124]

  • Margarit Soler A, Martínez-Sánchez L, Martinez-Monseny T, Trenchs-Sainz de la Maza V, Picouto MD, Villar F and Luaces-Cubells C.

    Epidemiological characteristics in suicidal adolescents seen in the Emergency Department

    ANALES DE PEDIATRIA . 85(1): 13-17. Nº de citas: 4

    [doi:10.1016/j.anpedi.2015.04.022]

  • Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso DC, Palau F and González-Cabo P.

    Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia

    DISEASE MODELS & MECHANISMS . 9(6): 647-657. Nº de citas: 13

    [doi:10.1242/dmm.024273]

  • 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]

  • Ponce G, Quiñones-Lombraña A, Martín-Palanco NG, Rubio-Solsona E, Jiménez-Arriero MÁ, Palomo T and Hoenicka J.

    The Addiction-Related Gene Ankk1 is Oppositely Regulated by D1R- and D2R-Like Dopamine Receptors.

    NEUROTOX RES . 29(3): 345-350. Nº de citas: 12

    [doi:10.1007/s12640-015-9545-9]

  • 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: 31

    [doi:10.1038/gim.2015.100]

  • Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F and Espinós C.

    Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

    BRAIN . 139: 62-72. Nº de citas: 64

    [doi:10.1093/brain/awv311]

  • Prieto J, León M, Ponsoda X, García-García F, Bort R, Serna E, Barneo-Muñoz M, Palau F, Dopazo J, López-García C and Torres J.

    Dysfunctional mitochondrial fission impairs cell reprogramming

    Cell Cycle . 15(23): 3240-3250. Nº de citas: 34

    [doi:10.1080/15384101.2016.1241930]

  • 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: 17

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