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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julià-Palacios NA, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB and Pearl PL.

    Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

    MOLECULAR GENETICS AND METABOLISM . 142(1): 108363-108363. Nº de cites: 1

    [doi:10.1016/j.ymgme.2024.108363]

  • Jung-Kc K, Tristan-Noguero A, Altankhuyag A, Piñol Belenguer D, Prestegård KS, Fernandez-Carasa I, Colini Baldeshi A, Sigatulina Bondarenko M, Garcia-Cazorla A, Consiglio A and Martinez A.

    Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-inmouse model

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 494-508. Nº de cites: 2

    [doi:10.1002/jimd.12702]

  • Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Nº de cites: 1

    [doi:10.1002/jimd.12689]

  • Roubertie, A, Opladen, T, Brennenstuhl, H, Hubschmann, OK, Flint, L, Willemsen, MA, Leuzzi, V, Garcia-Cazorla A, Kurian, MA, Francois-Heude, MC, Hwu, P, Ben Zeev, B, Kiening, K, Roujeau, T, Pons, R and Pearson, TS.

    Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 463-475. Nº de cites: 7

    [doi:10.1002/jimd.12649]

  • Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Sahin M and Pearl PL.

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    JOURNAL OF NEURODEVELOPMENTAL DISORDERS . 16(1): 21-21. Nº de cites: 1

    [doi:10.1186/s11689-024-09538-9]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de cites: 1

    [doi:10.1038/s41431-023-01526-2]

  • Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I and Mariotti C.

    Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

    NEUROLOGICAL SCIENCES . 45(3): 1007-1016. Nº de cites: 2

    [doi:10.1007/s10072-023-07101-3]

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I.

    Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1321282]

  • Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.

    L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study

    BRAIN . : 1653-1666. Nº de cites: 3

    [doi:10.1093/brain/awae041]

  • Hinojosa J, Candela-Cantó SA, Becerra V, Muchart-Lopez J, Gómez-Chiari M, Rumia J and Aparicio J.

    Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.

    Advances and technical standards in neurosurgery . 50: 119-145.

    [doi:10.1007/978-3-031-53578-9_4]