Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Begley D, Gabathuler R, Pastores G, Garcia-Cazorla A, Ardigò D, Scarpa M, Tomanin R and Tosi G.

    Challenges and opportunities in neurometabolic disease treatment with enzyme delivery.

    EXPERT OPINION ON DRUG DELIVERY . 21(6): 817-828.

    [doi:10.1080/17425247.2024.2375388]

  • Tost A, Romero-Lafuente S, Alonso-Lopez JF, Bachiller A, Serna LY, Medina-Rivera IF, Garcia-Cazorla A and Mañanas MA.

    EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome.

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 150: 104751-104751.

    [doi:10.1016/j.ridd.2024.104751]

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.

    [doi:10.1016/j.ymgme.2024.108511]

  • 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]

  • Julià-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortés-Saladelafont E, Rovira-Remisa MM, Yildiz Y, Mercimek-Andrews S, Assmann B, Stevanovic G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, Garcia-Cazorla A and Opladen T.

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 447-462. Nº de cites: 2

    [doi:10.1002/jimd.12723]

  • 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]