Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • 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: 8

    [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: 4

    [doi:10.1002/ajmg.a.61939]

  • 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 años del Programa de Cribado Neonatal en Cataluña.

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

  • Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche S, García-Díaz R, Soto V, Guerrero-López R, Julià-Palacios NA, Ciruela F, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.

    Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

    HUMAN MOLECULAR GENETICS . 29(24): 3859-3871. Nº de citas: 19

    [doi:10.1093/hmg/ddaa220]

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de citas: 22

    [doi:10.1007/s00401-020-02223-w]

  • Montolío-Marzo S, Català-Mora J, Madrid-Aris Á, Armstrong-Moron J, Diaz-Carcajosa J and Carreras E.

    IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 63(12): 104073-104073. Nº de citas: 5

    [doi:10.1016/j.ejmg.2020.104073]

  • Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.

    Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study

    Neurology . 95(21): 2866-2879. Nº de citas: 21

    [doi:10.1212/WNL.0000000000010794]

  • Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.

    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency

    OPHTHALMIC GENETICS . 41(6): 656-658. Nº de citas: 7

    [doi:10.1080/13816810.2020.1821382]

  • Miranda-Lourenço C, Duarte ST, Palminha C, Gaspar C, Rodrigues TM, Magalhães-Cardosof T, Rei N, Colino-Oliveira M, Gomes R, Ferreira S, Rosa J, Xapelli S, Armstrong-Moron J, Garcia-Cazorla A, Correia-de-Sá P, Sebastião AM and Diógenes MJ.

    Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.

    NEUROBIOLOGY OF DISEASE . 145: 105043-105043. Nº de citas: 9

    [doi:10.1016/j.nbd.2020.105043]

  • Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de citas: 32

    [doi:10.1038/s41598-020-75500-z]