People / Staff

MªAngels García Cazorla

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Publications

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.

    Cerebrospinal Fluid Ion Analysis in Neonatal Seizures

    PEDIATRIC NEUROLOGY . 128: 16-19. Number of citations: 2

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A and GWMD working group.

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology . 98(9): 912-923. Number of citations: 14

    [doi:10.1212/WNL.0000000000013278]

  • Migliorelli C, Medina-Rivera IF, Bachiller A, Tost A, Alonso-Lopez JF, López-Sala A, Armstrong-Moron J, O'Callaghan-Gordo M, Pineda M, Mañanas MA, Romero-Lafuente S and Garcia-Cazorla A.

    Cognitive stimulation has potential for brain activation in individuals with Rett syndrome

    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH . 66(3): 213-224. Number of citations: 5

    [doi:10.1111/jir.12902]

  • Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K and López-Laso E.

    Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    PARKINSONISM & RELATED DISORDERS . 94: 67-78. Number of citations: 2

    [doi:10.1016/j.parkreldis.2021.11.014]

  • Santos-Gómez A, Miguez-Cabello F, Julià-Palacios NA, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.

    Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(23): 12656. Number of citations: 11

    [doi:10.3390/ijms222312656]

  • Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julià-Palacios NA, Friedman J, Yildiz Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H, Burlina A, Cortés-Saladelafont E, Fernández Ramos JA, Garcia-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanovic G, Fung CW and International Working Group on Neurotransmitter related Disorders (iNTD).

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(6): 1489-1502. Number of citations: 7

    [doi:10.1002/jimd.12416]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Number of citations: 11

    [doi:10.3390/genes12101590]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

    PARKINSONISM & RELATED DISORDERS . 91: 19-22. Number of citations: 4

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Kuseyri Hübschmann O, Horvath G, Cortés-Saladelafont E, Yildiz Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kilavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF, iNTD Registry Study Group, Garcia-Cazorla A and Opladen T.

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    NATURE COMMUNICATIONS . 12(1): 5529-5529. Number of citations: 25

    [doi:10.1038/s41467-021-25515-5]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Number of citations: 11

    [doi:10.1093/clinchem/hvab091]