Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Tenorio-Castaño J, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martinez-Monseny T, O'Callaghan-Gordo M, Álvarez S, Stolerman ES, Washington C, Ramos FJ, Consortium TS and Lapunzina P.

    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    CLINICAL GENETICS . 100(4): 405-411. Nº de citas: 3

    [doi:10.1111/cge.14020]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

    PARKINSONISM & RELATED DISORDERS . 91: 19-22. Nº de citas: 4

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.

    Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): 10375. Nº de citas: 3

    [doi:10.3390/ijms221910375]

  • Kuseyri Hübschmann O, Horvath G, Cortés-Saladelafont E, Yildiz Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kilavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF, iNTD Registry Study Group, Garcia-Cazorla A and Opladen T.

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    NATURE COMMUNICATIONS . 12(1): 5529-5529. Nº de citas: 25

    [doi:10.1038/s41467-021-25515-5]

  • Tost A, Migliorelli C, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Garcia-Cazorla A and Mañanas MA.

    Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment

    ENTROPY . 23(8): 1030. Nº de citas: 7

    [doi:10.3390/e23081030]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de citas: 10

    [doi:10.1093/clinchem/hvab091]

  • Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.

    Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

    CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de citas: 1

    [doi:10.1007/s00381-021-05222-8]

  • Pérez JPM, Muchart-Lopez J, Santa-María López V, Suñol M, Salvador-Marcos N, Pérez-Jaume S, Cruz-Martínez O and Morales-La Madrid A.

    Targeted therapy for pediatric low-grade glioma

    CHILDS NERVOUS SYSTEM . 37(8): 2511-2520. Nº de citas: 13

    [doi:10.1007/s00381-021-05138-3]

  • Mateu-Estivill R, Forné S, López-Sala A, Falcón C, Caldú X, Sopena JM, Sans A, Adan A, Grau S, Bargalló N and Serra-Grabulosa JM.

    Functional connectivity alterations associated with literacy difficulties in early readers

    BRAIN IMAGING AND BEHAVIOR . 15(4): 2109-2120. Nº de citas: 11

    [doi:10.1007/s11682-020-00406-3]

  • De Oyarzabal-Sanz AL, Musokhranova U, Barros LF and Garcia-Cazorla A.

    Energy metabolism in childhood neurodevelopmental disorders

    EBioMedicine . 69: 103474-103474. Nº de citas: 38

    [doi:10.1016/j.ebiom.2021.103474]