Publicacions
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Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.
Neuromuscular Manifestations in Mitochondria! Diseases in Children
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Nº de cites: 6
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Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.
Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Nº de cites: 21
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Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.
Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion . 30: 51-58. Nº de cites: 49
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Ballester-Plané J, Laporta-Hoyos O, Macaya A, Poo P, Meléndez-Plumed M, Vázquez É, Delgado I, Zubiaurre-Elorza L, Narberhaus A, Toro-Tamargo E, Russi ME, Tenorio V, Segarra D and Pueyo R.
Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates
RESEARCH IN DEVELOPMENTAL DISABILITIES . 56: 83-98. Nº de cites: 20
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Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortés-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S and Additional individual contributors of the E-IMD consortium.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 39(5): 661-672. Nº de cites: 48
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Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Nº de cites: 24
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García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
PLoS One . 11(7): . Nº de cites: 6
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Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Pérez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C and Fung VS.
Phenotypic insights into ADCY5-associated disease
MOVEMENT DISORDERS . 31(7): 1033-1040. Nº de cites: 86
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Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
METABOLIC BRAIN DISEASE . 31(3): 705-709. Nº de cites: 6
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Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
PLoS One . 11(5): . Nº de cites: 40