Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 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. Nº de cites: 10

    [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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 9

    [doi:10.1093/clinchem/hvab091]

  • Tost A, Migliorelli C, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Garcia-Cazorla A and Mañanas MA.

    Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment

    ENTROPY . 23(8): 1030. Nº de cites: 6

    [doi:10.3390/e23081030]

  • De Oyarzabal-Sanz AL, Musokhranova U, Barros LF and Garcia-Cazorla A.

    Energy metabolism in childhood neurodevelopmental disorders

    EBioMedicine . 69: 103474-103474. Nº de cites: 36

    [doi:10.1016/j.ebiom.2021.103474]

  • Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders.

    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(4): 1070-1082. Nº de cites: 14

    [doi:10.1002/jimd.12360]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.

    Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

    PEDIATRIC NEUROLOGY . 119: 40-44. Nº de cites: 6

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.

    Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Nº de cites: 22

    [doi:10.1186/s13023-021-01784-7]