Persones / Equip Humà

Mªangels García Cazorla

Buscador de publicacions

Publicacions

  • 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.

    [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: International Recommendations for Screening, Monitoring, and Research.

    NEUROLOGY . 106(5): . Nº de cites: 1

    [doi:10.1212/WNL.0000000000214657]

  • Mochel F, De Oyarzabal-Sanz AL, Pias-Peleteiro LD, Ribeiro J, Bassereau P, Chalut K, Cognet L, Cronin L, Hameroff S, López-Murcia FJ, Pillai EK, Sales-Pardo M, Straube A, Hallou A and Garcia-Cazorla A.

    Connections between physics and metabolism in brain functions.

    iScience . 29(2): 114643-114643.

    [doi:10.1016/j.isci.2026.114643]

  • 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]

  • Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.

    Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

    NEUROBIOLOGY OF DISEASE . 216: 107098-107098. Nº de cites: 1

    [doi:10.1016/j.nbd.2025.107098]

  • Sigatullina M, Hübschmann OK, Kulhánek J, Pons R, Pearson TS, Jeltsch K, Badnjarevic I, Wassenberg T, Horvath G, Stevanovic G, Kurian MA, Cortés-Saladelafont E, Roubertie A, Leuzzi V, Bertoldi M, Mastrangelo M, Assmann B, Garcia-Cazorla A and Opladen T.

    Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): . Nº de cites: 2

    [doi:10.1002/jimd.70106]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

    Brain Communications . 7(5): . Nº de cites: 3

    [doi:10.1093/braincomms/fcaf348]

  • Gil-González, M, Arias, C, Saudubray, J, Colomé-Roura R and Garcia-Cazorla A.

    Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(5): .

    [doi:10.1002/jimd.70084]