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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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: 4

    [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: 6

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

  • 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: 1321282-1321282. Nº de cites: 3

    [doi:10.3389/fcell.2024.1321282]

  • 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: 3

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

  • 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]

  • Simao-Rafael M, Cruz-Martínez O, Pérez-Jaume S, Santa-María López V, Lavarino C, Salvador-Hernandez H, Muchart-Lopez J, Hinojosa J, Suñol M and Morales-La Madrid A.

    Use of bevacizumab in pediatric low-grade glioma: Ten-year experience in a single center

    EJC Paediatric Oncology . 2: 100115.

    [doi:10.1016/j.ejcped.2023.100115]

  • Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Milani, Celeste, Deligiannopoulou, Adamantia, Garcia-Cazorla A, Jang, Se Song, Julia-Palacios, Natalia, Keren, Boris, Kopajtich, Robert, Lynch, Sally Ann, Mignot, Cyril, Moorwood, Catherine, Neuhofer, Christiane, Nigro, Vincenzo, Oostra, Anna, Prokisch, Holger, Saillour, Virginie, Schuermans, Nika, Torella, Annalaura, Verloo, Patrick, Yazbeck, Elise, Zollino, Marcella, Jech, Robert, Winkelmann, Juliane, Necpal, Jan, Cali, Tito, Brini, Marisa and Zech, Michael.

    ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

    GENETICS IN MEDICINE . 25(12): 100971-100971. Nº de cites: 8

    [doi:10.1016/j.gim.2023.100971]

  • Tokatly Latzer I, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.

    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

    HUMAN GENETICS . 142(12): 1755-1776. Nº de cites: 5

    [doi:10.1007/s00439-023-02613-6]

  • Tokatly Latzer I, Hanson E, Bertoldi M, Garcia-Cazorla A, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB and Pearl PL.

    Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 65(12): 1596-1606. Nº de cites: 13

    [doi:10.1111/dmcn.15659]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de cites: 13

    [doi:10.1002/ana.26758]