Cognitive stimulation has potential for brain activation in individuals with Rett syndrome
Migliorelli, C., Medina‐Rivera, I., Bachiller, A., Tost, A., Alonso, J. F., López‐Sala, A., Armstrong, J., O'Callahan, M. d. M., Pineda, M., Mañanas, M. A., Romero, S., García‐Cazorla, Á.
Published in Journal of intellectual disability research (01.03.2022)
Published in Journal of intellectual disability research (01.03.2022)
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Journal Article
Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission
Cortès-Saladelafont, EMD, Tristán-Noguero, A, Artuch, R., MD, PhD, Altafaj, X., PhD, Bayès, A., PhD, García-Cazorla, A., MD, PhD
Published in Seminars in pediatric neurology (01.11.2016)
Published in Seminars in pediatric neurology (01.11.2016)
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Journal Article
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
Oyarzabal, A., Bravo-Alonso, I., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.
Published in Biochimica et biophysica acta (01.04.2016)
Published in Biochimica et biophysica acta (01.04.2016)
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Journal Article
A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities
Yubero, D., Adin, A., Montero, R., Jou, C., Jiménez-Mallebrera, C., García-Cazorla, A., Nascimento, A., O’Callaghan, M. M., Montoya, J., Gort, L., Navas, P., Ribes, A., Ugarte, M. D., Artuch, R.
Published in Scientific reports (05.12.2016)
Published in Scientific reports (05.12.2016)
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Journal Article
Epilepsy and inborn errors of metabolism in children
Wolf, N. I., García-Cazorla, A., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Journal Article
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis
Couce, M.L, Ramos, F, Bueno, M.A, Díaz, J, Meavilla, S, Bóveda, M.D, Fernández-Marmiesse, A, García-Cazorla, A
Published in European journal of paediatric neurology (01.11.2015)
Published in European journal of paediatric neurology (01.11.2015)
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Journal Article
Mental retardation and inborn errors of metabolism
García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Journal Article
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency
Ortez, C., Duarte, S.T., Ormazábal, A., Serrano, M., Pérez, A., Pons, R., Pineda, M., Yapici, Z., Fernández-Álvarez, E., Domingo-Jiménez, R., De Castro, P., Artuch, R., García-Cazorla, A.
Published in Molecular genetics and metabolism (01.01.2015)
Published in Molecular genetics and metabolism (01.01.2015)
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Journal Article
Inborn errors of metabolism and motor disturbances in children
García-Cazorla, A, Wolf, N. I, Serrano, M, Pérez-Dueñas, B, Pineda, M, Campistol, J, Fernández-Alvarez, E, Colomer, J, DiMauro, S, Hoffmann, G. F
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Journal Article
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
Ortez, C., Jou, C., Cortès-Saladelafont, E., Moreno, J., Pérez, A., Ormazábal, A., Pérez-Cerdá, C., Pérez, B., Artuch, R., Cusi, V., García-Cazorla, A.
Published in Gene (15.12.2013)
Published in Gene (15.12.2013)
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Journal Article
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients
García-Cazorla, A, De Lonlay, P, Nassogne, M C, Rustin, P, Touati, G, Saudubray, J M
Published in Pediatrics (Evanston) (01.11.2005)
Published in Pediatrics (Evanston) (01.11.2005)
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Journal Article
Secondary abnormalities of neurotransmitters in infants with neurological disorders
García‐Cazorla, A, Serrano, M, Pérez‐Dueñas, B, González, V, Ormazábal, A, Pineda, M, Fernández‐álvarez, E, Campistol, J M D, Artuch, R M D
Published in Developmental medicine and child neurology (01.10.2007)
Published in Developmental medicine and child neurology (01.10.2007)
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Journal Article
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A
Published in European journal of paediatric neurology (01.09.2009)
Published in European journal of paediatric neurology (01.09.2009)
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Journal Article
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment
Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.
Published in Data in brief (01.06.2016)
Published in Data in brief (01.06.2016)
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Journal Article
Hypokinetic-rigid syndrome in children and inborn errors of metabolism
García-Cazorla, A, Ortez, C, Pérez-Dueñas, B, Serrano, M, Pineda, M, Campistol, J, Fernández-Álvarez, E
Published in European journal of paediatric neurology (01.07.2011)
Published in European journal of paediatric neurology (01.07.2011)
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Journal Article
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria
Espinós, C, García-Cazorla, A, Martínez-Rubio, D, Martínez-Martínez, E, Vilaseca, MA, Pérez-Dueñas, B, Kožich, V, Palau, F, Artuch, R
Published in Clinical genetics (01.12.2010)
Published in Clinical genetics (01.12.2010)
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Journal Article
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Journal Article
Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations
Serrano, M, Ormazábal, A, Pérez-Dueñas, B, Artuch, R, Coroleu, W, Krauel, X, Campistol, J, García-Cazorla, A
Published in Neurology (17.07.2007)
Published in Neurology (17.07.2007)
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Journal Article
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders
Montero, R., Artuch, R., Briones, P., Nascimento, A., García-Cazorla, A., Vilaseca, M.A., Śnchez-Alćzar, J.A., Navas, P., Montoya, J., Pineda, M.
Published in BioFactors (Oxford) (2005)
Published in BioFactors (Oxford) (2005)
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