Persones / Equip Humà

Mªangels García Cazorla

Buscador de publicacions

Publicacions

  • Kumar R, Gardner A, Bhattacharjee R, Agarwala S, van Eyk CL, Corbett MA, Carroll R, Kroes T, Ritchie T, de Nys R, Mazurkiewicz D, Bing W, Palmer EE, Field M, Verseput JJA, de Vries BBA, Dingemans AJM, Zhang Q, Li F, Bernier F, Lauzon J, Smigiel R, Ortigoza-Escobar JD, Garcia-Cazorla A, Darling A, Boerkoel CF, Huynh S, Costain G, van Ham TJ, Kasteleijn E, van Slegtenhorst M, Barakat TS, Elgersma Y, van Ierland Y, Veenma D, Azmanov D, Weisman AG, Prada CE, Parkash S, Rideout AL, Kerstjens-Frederikse WS, Vengoechea J, Schoene-Bake JC, Devillard F, van der Smagt J, Giesbertz NAA, Fry AE, Jezkova J, Kampmeier A, Kuechler A, Grasshoff U, Bertrand M, Hickey SE, Hunter JM, Marr MV, Dupont J, Bigoni S, Ferlini A, Selvatici R, Chatron N, Lesca G, Januel L, Rossi M, Rogers C, Davis JM, McKenzie F, Marbach F, Gieldon L, Schmidt WM, Paquay A, Bittner RE, Mahal S, Bernert G, Sinnerbrink I, Goodwin L, Cooper S, Bannink N, Jolly LA, McGaughran J, Bosman A, Hernan R, Chung WK, Valenzuela I, Cuscó I, Schlüter A, Pujol A, Pérez-Jurado LA and Gecz J.

    Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

    GENETICS IN MEDICINE . : 102734-102734.

    [doi:10.1016/j.gim.2026.102734]

  • Ribeiro J, Tangeraas, T and Garcia-Cazorla A.

    Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 49(5): .

    [doi:10.1002/jimd.70242]

  • Romagosa J, Ribeiro J, Julià-Palacios NA, Darling A, Marí-Vico R, Valls-Esteve A, Olivella M, Altafaj X, Stephan-Otto C and Garcia-Cazorla A.

    Brain structure abnormalities in neurodevelopmental synaptopathies

    NeuroImage-Clinical . 51: 104038-104038.

    [doi:10.1016/j.nicl.2026.104038]

  • Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla-Olivas SM, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B and Martín-Hernández E.

    Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry

    International Journal of Neonatal Screening . 12(2): .

    [doi:10.3390/ijns12020044]

  • Teinert J, Gleich F, Kozich V, Dionisi-Vici C, Bellusci M, Haas D, Ješina P, Martinelli D, Pérez-Mohand P, Burlina A, Rubert L, Couce ML, Debray FG, Roland D, Gaspar A, Mohnike K, Garbade SF, Scarpa M, Nassogne MC, Tangeraas T, Gasperini S, Garcia-Cazorla A, Mütze U and Kölker S.

    Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry

    GENETICS IN MEDICINE . 28(5): 102554-102554. Nº de cites: 2

    [doi:10.1016/j.gim.2026.102554]

  • Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, Garcia-Cazorla A, Gómez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M and Mochel F.

    Use of Brain MRI in Cerebral Adrenoleukodystrophy

    NEUROLOGY . 106(5): . Nº de cites: 4

    [doi:10.1212/WNL.0000000000214657]

  • Nafria-Escalera B, Claverol J, Cubells M, Llanos C, Solé L, Sans E, López S, Català-Mora J, Rives-Solà S, Morales-La Madrid A, Pineda M, Garcia-Cazorla A, Nascimento-Osorio A, Morales-Ballús M, Roe D, Fortuny-Guasch C and Phillips B.

    Cross-border access to clinical trials: participation of pediatric patients and language inclusion

    PEDIATRIC RESEARCH . : .

    [doi:10.1038/s41390-026-04820-z]

  • Aranda S, Ribeiro J, Tristán-Noguero A, Moreno-Ruiz N, Arenas C, Calvo FFM, Ibañez-Mico S, Segura JLP, Ramos-Fernández JM, Del Carmen Moyano Chicano M, León RC, Soto-Insuga V, González-Alguacil E, Carlos Valera Dávila, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Del Pilar Martin-Tamayo Blázquez M, Paredes-Carmona F, Marti-Carrera I, Ginot-Julià G, Hernández-Fabián A, Davi MT, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan-Gordo M, Iglesias Santa Polonia FF, Cazorla MR, Lucas MTF, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Anna M, Cueto-González, Párraga FV, Campistol-Plana J, Serrano M, Xenia Alonso, Palafoll MIV, Monteagudo E, Alonso-Colmenero I, Sans-Capdevila O, Casals F, Cormand B, Garcia-Cazorla A, Bayés À and Mitjans M.

    Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.

    NEUROBIOLOGY OF DISEASE . 222: 107357-107357.

    [doi:10.1016/j.nbd.2026.107357]

  • Deudero A, Esther Lasheras Soria, Ventura R, Montserrat-Carbonell C, Milisenda JC, Julià-Palacios NA, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla A, Campistol-Plana J and Iem-Sjd-Hcb Consortia.

    Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience

    Journal of Clinical Medicine . 15(1): .

    [doi:10.3390/jcm15010081]

  • Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA and Vanderver A.

    Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective

    PEDIATRIC NEUROLOGY . 173: 156-165. Nº de cites: 1

    [doi:10.1016/j.pediatrneurol.2025.09.019]