Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

    Biomedicines . 9(2): 148. Nº de citas: 4

    [doi:10.3390/biomedicines9020148]

  • Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.

    Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications

    HUMAN MUTATION . 42(2): 142-149. Nº de citas: 14

    [doi:10.1002/humu.24151]

  • Cruz-Martínez O, Caloretti V, Salvador-Hernandez H, Celis-Passini V, Santa-María López V, Morales-La Madrid A, Suñol M, Puerta P, Muchart-Lopez J, Krauel L and Lavarino C.

    Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome

    HEREDITARY CANCER IN CLINICAL PRACTICE . 19(1): 1-1. Nº de citas: 2

    [doi:10.1186/s13053-020-00158-7]

  • Nalpas, N, Hoyles, L, Anselm, V, Ganief, T, Martinez-Gili, L, Grau-Páez C, Droste-Borel, I, Davidovic, L, Altafaj, X, Dumas, ME and Macek, B.

    An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome

    Gut Microbes . 13(1): . Nº de citas: 12

    [doi:10.1080/19490976.2021.1994836]

  • Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.

    An international classification of inherited metabolic disorders (ICIMD)

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 207

    [doi:10.1002/jimd.12348]

  • Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.

    Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

    brain communications . 3(3): . Nº de citas: 11

    [doi:10.1093/braincomms/fcab128]

  • Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.

    Galactokinase deficiency: lessons from the GalNet registry

    GENETICS IN MEDICINE . 23(1): 202-210. Nº de citas: 18

    [doi:10.1038/s41436-020-00942-9]

  • García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.

    GRIN database: A unified and manually curated repertoire of GRIN variants

    HUMAN MUTATION . 42(1): 8-18. Nº de citas: 32

    [doi:10.1002/humu.24141]

  • Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.

    Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de citas: 9

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de citas: 5

    [doi:10.1002/ajmg.a.61939]