Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system
Marti-Sanchez, L, Ortigoza-Escobar, J D, Darling, A, Villaronga, M, Baide, H, Molero-Luis, M, Batllori, M, Vanegas, M I, Muchart, J, Aquino, L, Artuch, R, Macaya, A, Kurian, M A, Dueñas, Pérez
Published in Orphanet journal of rare diseases (30.01.2018)
Published in Orphanet journal of rare diseases (30.01.2018)
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EPITRANS. Quality assessment of the epilepsy transition process
Ortiz de Zarate, Z., Fonseca, E., Abraira, L., Santamarina, E., Campos-Fernández, D., Quintana, M., Sánchez, J., Goméz-Andrés, D., Sala, J., Raspall, M., Felipe-Rucián, A., Del Toro, M., Macaya, A., Toledo, M.
Published in European journal of paediatric neurology (01.01.2024)
Published in European journal of paediatric neurology (01.01.2024)
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Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness
Laporta-Hoyos, O., Ballester-Plané, J., Póo, P., Macaya, A., Meléndez-Plumed, M., Vázquez, E., Delgado, I., Zubiaurre-Elorza, L., Botellero, V. L., Narberhaus, A., Toro-Tamargo, E., Segarra, D., Pueyo, R.
Published in Quality of life research (01.05.2017)
Published in Quality of life research (01.05.2017)
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Pediatric Klüver-Bucy Syndrome: Report of Two Cases and Review of the Literature
Juliá-Palacios, N, Boronat, S, Delgado, I, Felipe, A, Macaya, A
Published in Neuropediatrics (01.04.2018)
Published in Neuropediatrics (01.04.2018)
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Monitoring the evolution of stiffness during ultraviolet curing of a vinyl ester resin with quasi-normal air-coupled ultrasonic spectroscopy
Dominguez-Macaya, A., Álvarez-Arenas, T.E.G., Saenz-Dominguez, I., Tena, I., Aurrekoetxea, J., Iturrospe, A.
Published in Polymer testing (01.12.2019)
Published in Polymer testing (01.12.2019)
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A clinical diagnostic algorithm for early onset cerebellar ataxia
Brandsma, R., Verschuuren-Bemelmans, C.C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O.F., Bürk, K., Catsman-Berrevoets, C.E., Craiu, D., de Coo, I.F.M., Gburek, J., Kennedy, C., de Koning, T.J., Kremer, H.P.H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M.A.J., Vasco, G., Willemsen, M.A.A.P., Zanni, G., Valente, E.M., Boltshauser, E., Sival, D.A.
Published in European journal of paediatric neurology (01.09.2019)
Published in European journal of paediatric neurology (01.09.2019)
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Candidate-gene association study searching for genetic factors involved in migraine chronification
Louter, MA, Fernandez-Morales, J, de Vries, B, Winsvold, B, Anttila, V, Fernandez-Cadenas, I, Vila-Pueyo, M, Sintas, C, van Duijn, CM, Cormand, B, Álvarez-Sabin, J, Montaner, J, Ferrari, MD, van den Maagdenberg, AMJM, Palotie, A, Zwart, JA, Macaya, A, Terwindt, GM, Pozo-Rosich, P
Published in Cephalalgia (01.05.2015)
Published in Cephalalgia (01.05.2015)
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Pediatric onset of mitochondrial myopathy due to ANT1 mutation
Martinez-Saez, E, Olive, M, Sanchez-Montañez, A, Gratacos, M, Gran-Piña, F, García-Arumí, E, Paredes, F, Camacho-Soriano, J, Ramón y Cajal, S, Macaya, A, Munell, F
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain
Gomez-Garcia de la Banda, M, Julia, N, Felipe, A, Sanchez-Montañez, A, Balcells, J, Pujol, M, Soler, P, Rodrigo, C, Floriano, B, Lopez, J, Macaya, A, Munell, F
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci
Macaya, A, Drechsel, O, Álvarez-Molinero, M, Marcé-Grau, A, Ferrer-Aparicio, S, Gómez-Andrés, D, Flotats-Bastardas, M, Pons, M.R, Raspall-Chaure, M, Bezdan, D, Bossio, M, Munell, F, Ossowski, S
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Association study of the serotoninergic system in migraine in the spanish population
Corominas, R., Sobrido, M.J., Ribasés, M., Cuenca-León, E., Blanco-Arias, P., Narberhaus, B., Roig, M., Leira, R., López-González, J., Macaya, A., Cormand, B.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2010)
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Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)
Serrano, N.L, Cuadras, D, de Diego, V, Martínez-Monseny, A.F, Velázquez-Fragua, R, López, L, Felipe, A, Miranda, M.C, Carratala, F, Couce, M.L, Gutierrez-Solana, L.G, Macaya, A, Muchart, J, Montero, R, Artuch, R, Pérez-Cerdá, C, Pérez, B, Itzep, D, Pérez-Dueñas, B, Serrano, M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Serrano, M, de Diego, V, Martínez-Montseny, A.F, Cuadras, D, Muchart, J, Velázquez-Fragua, R, López, L, Gutiérrez-Solana, L.G, Felipe, A, Macaya, A, Cancho, R, Carrasco, M.Ll, Carratalá, F, Miranda, M.C, Lopez-Laso, E, Sierra-Córcoles, M.C, Couce, M.L, Quijada-Fraile, P, García, O, Pérez-Dueñas, B, Poretti, A
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Lack of association of hormone receptor polymorphisms with migraine
Corominas, R., Ribasés, M., Cuenca-León, E., Cormand, B., Macaya, A.
Published in European journal of neurology (01.03.2009)
Published in European journal of neurology (01.03.2009)
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OP9 – 2583: Phosphomanomutase deficiency (PMM2-CDG): Assessment of cerebellar dysfunction through ICARS
De Diego, V, Serrano, M, Muchart, J, Felipe, A, Macaya, A, Velázquez, R, Póo, P, Fons, C, O'Callaghan, M, García-Cazorla, A, Boix, C, Robles, B, Carratalá, F, Girós, M, Artuch, R, Pérez-Cerdá, C, Pérez, B, Pérez-Dueñas, B
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis
Vazquez, E, Macaya, A, Mayolas, N, Arevalo, S, Poca, M.A, Enriquez, G
Published in American journal of neuroradiology : AJNR (01.11.2008)
Published in American journal of neuroradiology : AJNR (01.11.2008)
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