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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

Buscador de publicacions

Publicacions

  • 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 cites: 3

    [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 cites: 87

    [doi:10.1002/jimd.12348]

  • 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 cites: 14

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

  • Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders.

    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(4): 1070-1082. Nº de cites: 12

    [doi:10.1002/jimd.12360]

  • 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 cites: 24

    [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 cites: 6

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Tristan-Noguero A, Borràs E, Molero M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch-Iriberri R, Sabidó E and Garcia-Cazorla A.

    Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

    MOVEMENT DISORDERS . 36(3): 690-703. Nº de cites: 5

    [doi:10.1002/mds.28362]

  • 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 cites: 2

    [doi:10.1002/ajmg.a.61939]

  • Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Macaya A and Pérez-Dueñas B.

    Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de cites: 24

    [doi:10.1002/jimd.12288]

  • Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.

    [50 years of the Neonatal Screening Program in Catalonia.]

    Revista espanola de salud publica . 94: 1-15.