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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà-Brau A, Mantilla A, Pascual M, Martinell M, Meya U and Durr A.

    Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia

    NEUROLOGY-GENETICS . 8(6): 1-14. Nº de cites: 3

    [doi:10.1212/NXG.0000000000200034]

  • Kožich V, Schwahn BC, Sokolová J, Krížková M, Ditroi T, Krijt J, Khalil Y, Krížek T, Vaculíková-Fantlová T, Stiburková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, Garcia-Cazorla A, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G and Nagy P.

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    REDOX BIOLOGY . 58: 102517-102517. Nº de cites: 13

    [doi:10.1016/j.redox.2022.102517]

  • Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J and Garcia-Cazorla A.

    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

    Neuroradiology . 64(11): 2179-2190. Nº de cites: 2

    [doi:10.1007/s00234-022-02989-8]

  • Hinojosa J, Simó-Nebot M, Armero-Campos G, Becerra MV, Alamar AM, Candela-Cantó SA, Culebras D, Muchart-Lopez J and Berrueco R.

    Hemophilia and non-accidental head trauma in two siblings: lessons and legal implications

    CHILDS NERVOUS SYSTEM . 38(12): 2415-2423.

    [doi:10.1007/s00381-022-05713-2]

  • Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pias-Peleteiro LD, O'Callaghan-Gordo M, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S and Espinós C.

    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11847. Nº de cites: 5

    [doi:10.3390/ijms231911847]

  • Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pias-Peleteiro LD, Català-Mora J, Bolasell M, Torella A, Nigro V, Zanni G and Brunetti-Pierri N.

    Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(10): 3032-3040. Nº de cites: 2

    [doi:10.1002/ajmg.a.62911]

  • Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla-Olivas SM, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de los Santos MM, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M and Bellusci M.

    Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

    Journal of Clinical Medicine . 11(17): 5045. Nº de cites: 3

    [doi:10.3390/jcm11175045]

  • Sánchez-Pintos P, Meavilla-Olivas SM, López-Ramos MG, Garcia-Cazorla A and Couce ML.

    Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

    Frontiers in pediatrics . 10: 969741-969741. Nº de cites: 1

    [doi:10.3389/fped.2022.969741]

  • Kuseyri Hübschmann O, Julià-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortés-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T and Garcia-Cazorla A.

    Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

    ANNALS OF NEUROLOGY . 92(2): 292-303. Nº de cites: 6

    [doi:10.1002/ana.26423]

  • Wu V, Tillner J, Jones E, McKenzie JS, Gurung D, Mroz A, Poynter L, Simon D, Grau-Páez C, Altafaj X, Dumas ME, Gilmore I, Bunch J and Takats Z.

    High Resolution Ambient MS Imaging of Biological Samples by Desorption Electro-Flow Focussing Ionization

    ANALYTICAL CHEMISTRY . 94(28): 10035-10044. Nº de cites: 16

    [doi:10.1021/acs.analchem.2c00345]