Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.

    Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

    MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Number of citations: 15

    [doi:10.1016/j.ymgme.2019.01.001]

  • De Oyarzabal-Sanz AL and Marin-Valencia I.

    Synaptic energy metabolism and neuronal excitability, in sickness and health

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 220-236. Number of citations: 30

    [doi:10.1002/jimd.12071]

  • Puerta-Roldan P, López VS, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J, Thomas C and Guillen-Quesada A.

    Vanishing diffuse leptomeningeal contrast enhancement in an infant with choroid plexus papilloma.

    ACTA NEUROCHIRURGICA . 161(2): 351-354. Number of citations: 4

    [doi:10.1007/s00701-018-03781-5]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Number of citations: 26

    [doi:10.1038/s41598-018-37542-2]

  • Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    MEDICINA-BUENOS AIRES . 79(s3): 6-9.

  • Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong-Moron J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L and Renieri A.

    Analysis of the Phenotypes in the Rett Networked Database

    INTERNATIONAL JOURNAL OF GENOMICS . 2019: 6956934-6956934. Number of citations: 19

    [doi:10.1155/2019/6956934]

  • Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P and Additional individual contributors of the UCDC and the E-IMD consortium.

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 93-106. Number of citations: 23

    [doi:10.1002/jimd.12031]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Number of citations: 12

    [doi:10.3390/jcm8010068]

  • Saudubray JM and Garcia-Cazorla A.

    An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

    Dialogues in Clinical Neuroscience . 20(4): 301-325. Number of citations: 51

    [doi:10.31887/DCNS.2018.20.4/jmsaudubray]

  • Candela-Cantó SA, Aparicio J, Muchart-Lopez J, Baños-Carrasco P, Ramírez-Camacho A, Climent A, Alamar M, Jou-Munoz C, Rumià J, San Antonio-Arce MV, Arzimanoglou A and Ferrer Vidal-Barraquer E.

    Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues.

    ACTA NEUROCHIRURGICA . 160(12): 2489-2500. Number of citations: 19

    [doi:10.1007/s00701-018-3720-8]