Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Serrano M.

    Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

    Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.

    [doi:10.19080/GJIDD.2017.01.555573]

  • Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Marti-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH and Crow YJ.

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

    Neuropediatrics . 48(3): 166-184. Nº de citas: 59

    [doi:10.1055/s-0037-1601449]

  • Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C and Rodríguez-Pombo P.

    Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

    HUMAN MUTATION . 38(6): 678-691. Nº de citas: 13

    [doi:10.1002/humu.23208]

  • Suades-González E, Forns J, García-Esteban R, López-Vicente M, Esnaola M, Álvarez-Pedrerol M, Julvez J, Cáceres A, Basagaña X, López-Sala A and Sunyer J.

    A Longitudinal Study on Attention Development in Primary School Children with and without Teacher-Reported Symptoms of ADHD.

    FRONTIERS IN PSYCHOLOGY . 8: 655-655. Nº de citas: 41

    [doi:10.3389/fpsyg.2017.00655]

  • 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]

  • Colón C, Alvarez JV, Castaño C, Gutierrez-Solana LG, Marquez AM, O'Callaghan-Gordo M, Sánchez-Valverde F, Yeste C and Couce ML.

    A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.

    Medicine . 96(19): . Nº de citas: 11

    [doi:10.1097/MD.0000000000006887]

  • Laporta O, Ballester J, Poo P, Macaya A, Meléndez-Plumed M, Vázquez E, Delgado I, Zubiaurre-Elorza L, Botellero VL, Narberhaus A, Toro-Tamargo E, Segarra D and Pueyo R.

    Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness.

    QUALITY OF LIFE RESEARCH . 26(5): 1209-1222. Nº de citas: 24

    [doi:10.1007/s11136-016-1433-0]

  • Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.

    A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    JOURNAL OF PEDIATRICS . 183: 170-170. Nº de citas: 25

    [doi:10.1016/j.jpeds.2016.12.060]

  • Puerta P, Guillén A, Muchart-Lopez J, González V and Ferrer E.

    Cerebral Proliferative Angiopathy in a Child.

    PEDIATRIC NEUROSURGERY . 52(3): 214-216. Nº de citas: 9

    [doi:10.1159/000459629]

  • Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL and Kurian MA.

    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

    NATURE GENETICS . 49(2): 223-237. Nº de citas: 166

    [doi:10.1038/ng.3740]