Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Colomer A, Sanabria JP, Hernández-Negrín H, Borràs X, Suso-Ribera C, García-Palacios A, Muchart-Lopez J, Munuera-del Cerro JL, Francesco D'Amico, Maes M, Younger JW, Feliu A, Rozadilla A and Luciano JV.

    Study protocol for a randomised, double-blinded, placebo-controlled phase III trial examining the add-on efficacy, cost-utility and neurobiological effects of low-dose naltrexone (LDN) in patients with fibromyalgia (INNOVA study)

    BMJ Open . 12(1): . Nº de citas: 8

    [doi:10.1136/bmjopen-2021-055351]

  • Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K and López-Laso E.

    Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    PARKINSONISM & RELATED DISORDERS . 94: 67-78. Nº de citas: 2

    [doi:10.1016/j.parkreldis.2021.11.014]

  • Santos-Gómez A, Miguez-Cabello F, Julià-Palacios NA, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.

    Paradigmatic De Novo GRIN1Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(23): 12656. Nº de citas: 9

    [doi:10.3390/ijms222312656]

  • Brugada-Bellsolà F, Candela-Cantó SA, Muchart-Lopez J, Aparicio J, Alamar AM, Becerra Castro V, Rumià Arboix J and Hinojosa Mena-Bernal J.

    Delayed hemorrhage after pediatric stereo-electroencephalography: delayed occurrence or delayed diagnosis?

    CHILDS NERVOUS SYSTEM . 37(12): 3817-3826. Nº de citas: 3

    [doi:10.1007/s00381-021-05297-3]

  • Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.

    Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

    JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Nº de citas: 12

    [doi:10.1016/j.jbc.2021.101338]

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Nº de citas: 8

    [doi:10.1016/j.biopha.2021.112143]

  • Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julià-Palacios NA, Friedman J, Yildiz Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H, Burlina A, Cortés-Saladelafont E, Fernández Ramos JA, Garcia-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanovic G, Fung CW and International Working Group on Neurotransmitter related Disorders (iNTD).

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(6): 1489-1502. Nº de citas: 7

    [doi:10.1002/jimd.12416]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Nº de citas: 10

    [doi:10.3390/genes12101590]

  • 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]

  • 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]