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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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 cites: 2

    [doi:10.1002/jimd.12416]

  • 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 cites: 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 cites: 10

    [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 cites: 9

    [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 cites: 23

    [doi:10.1016/j.ebiom.2021.103474]

  • Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons-Estupina C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA, Duke AHC Research Group and French AHC Consortium.

    Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.

    brain communications . 3(3): . Nº de cites: 5

    [doi:10.1093/braincomms/fcab128]

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de cites: 3

    [doi:10.3390/ijms22105180]

  • Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.

    LANCET NEUROLOGY . 20(5): 362-372. Nº de cites: 35

    [doi:10.1016/S1474-4422(21)00027-2]

  • Machuca C, Correa-Vela M, García-Navas D, Darling A, Villalón-García I, Sánchez-Alcázar JA, Pérez-Dueñas B, Erceg S and Espinós C.

    Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

    STEM CELL RESEARCH . 53: 102338-102338.

    [doi:10.1016/j.scr.2021.102338]

  • Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.

    Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Nº de cites: 17

    [doi:10.1186/s13023-021-01784-7]