People / Staff

Carlos Ignacio Ortez Gonzalez

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Publications

  • Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner-Rubies F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez-Gonzalez CI, Nascimento-Osorio A, Colomer J and Jimenez-Mallebrera C.

    Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

    PLoS One . 8(10): . Number of citations: 24

    [doi:10.1371/journal.pone.0077430]

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Number of citations: 72

    [doi:10.1371/journal.pone.0068851]

  • Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Number of citations: 42

    [doi:10.1111/dmcn.12116]

  • Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.

    Hypokinetic-rigid syndrome in children and inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Number of citations: 11

    [doi:10.1016/j.ejpn.2011.04.013]

  • Duarte ST, Ortez-Gonzalez CI, Pérez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(2): 523-528. Number of citations: 7

    [doi:10.1007/s10545-010-9256-6]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Number of citations: 6

    [doi:10.3233/JAD-2011-110647]

  • Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.

    Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

    Journal of Neuromuscular Diseases . : .

    [doi:10.1177/22143602261453996]

  • Capece G, Di Feo MF, Melnik E, Dadali E, Markova T, Verloes A, Ruscitti F, Lévy J, Natera-de Benito D, Ortez-Gonzalez CI, Nascimiento A, Estévez-Arias B, Jou-Munoz C, Kurbatov S, Murtazina A, Sharkov A, Elkhateeb N, ElNaggar W, Faletra F, Mio C, Schymick J, Calvert P, Alanay Y, Isik E, Yildiz B, Bakhtiari S, Kruer MC, Roos A, Kölbel H, Darvish H, Vosoogh S, Chouery E, Mehawej C, Mégarbané A, Andoni Urtizberea J, Senghor HVF, Ndiaye M, Rodriguez Cruz PM, Bello L, Pegoraro E, Udd B and Savarese M.

    Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

    BRAIN . : .

    [doi:10.1093/brain/awag249]