Publications
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Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.
Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome
PEDIATRIC RESEARCH . 97(2): 751-762. Number of citations: 1
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Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
brain communications . 7(5): .
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Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 1
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Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 1
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Gimeno-Agud H, Díaz-Osorio Y and De Oyarzabal-Sanz AL.
Biological Basis of Cell Trafficking: A General Overview
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 2
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Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Diagnostics . 15(1): . Number of citations: 1
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Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.
Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.
research square . : .
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Schoenmakers, DH, Beerepoot, S, Adang, LA, Asbreuk, MABC, Bergner, CG, Bley, AE, Boelens, JJ, Calbi, V, Darling A, Eklund, E, Cazorla, AG, Gronborg, SW, Groeschel, S, van Hasselt, PM, Hollak, CEM, Horgan, C, Jones, S, de Koning, T, Laugwitz, L, Lindemans, C, Martin, P, Mochel, F, Oberg, A, Ram, D, Sevin, C, Schöls, L, Zerem, A, Wolf, N and Fumagalli, F.
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
PROTEIN & CELL . 16(1): 12-15. Number of citations: 1
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de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla-Olivas SM, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R and Quintero J.
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Nutrients . 16(24): . Number of citations: 5
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Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.
Extra-temporal pediatric low-grade gliomas and epilepsy
CHILDS NERVOUS SYSTEM . 40(10): 3309-3327. Number of citations: 1
