Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • 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 citas: 5

    [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 ALDH5A variants

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

    [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 citas: 10

    [doi:10.1002/ana.26758]

  • Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

    JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756. Nº de citas: 5

    [doi:10.1186/s12967-023-04622-5]

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Dominguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Nº de citas: 5

    [doi:10.1136/jmg-2022-109132]

  • Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P and O'Callaghan-Gordo M.

    Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Biomedicines . 11(10): . Nº de citas: 1

    [doi:10.3390/biomedicines11102861]

  • Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M.

    Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(18): .

    [doi:10.3390/ijms241813699]

  • Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

    Nutrients . 15(15): . Nº de citas: 3

    [doi:10.3390/nu15153475]

  • Paliotti, K, Dassi, C, Berrahmoune, S, Bejaran, ML, Carlos Valera Dávila, Borras-Martinez A, Fons-Estupina C, Mancardi, MM, Riva, A, Giacomini, T, Severino, M, Romaniello, R, Dubeau, F, Srour, M and Myers, KA.

    The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia

    JOURNAL OF NEUROLOGY . 270(8): 3934-3945. Nº de citas: 4

    [doi:10.1007/s00415-023-11724-z]