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Mªangels García Cazorla

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Publications

  • 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. Number of citations: 19

    [doi:10.1111/dmcn.15659]

  • 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. Number of citations: 17

    [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. Number of citations: 9

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

  • 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. Number of citations: 41

    [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. Number of citations: 16

    [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, Domínguez-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. Number of citations: 14

    [doi:10.1136/jmg-2022-109132]

  • 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): . Number of citations: 11

    [doi:10.3390/nu15153475]

  • Latzer IT, 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.

    research square . : .

    [doi:10.21203/rs.3.rs-3111263/v1]

  • Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.

    BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

    BRAIN . 146(7): 3003-3013. Number of citations: 27

    [doi:10.1093/brain/awad010]

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15. Number of citations: 4

    [doi:10.1016/j.pediatrneurol.2023.03.004]