Publicacions
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Muhmann D, Haliloglu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yildiz AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estévez-Arias B, Vicente EC, Nascimento-Osorio A, Marina AD, Natera-de Benito D and Roos A.
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.
EUROPEAN JOURNAL OF NEUROLOGY . 33(9): .
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Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Estévez-Arias B, Tizzano E and Natera-de Benito D.
Fenotipos de distrofia muscular congénita.
MEDICINA-BUENOS AIRES . 86 Suppl 3: 7-13.
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Carrera-García L, Estévez-Arias B, Nascimento-Osorio A, Exposito-Escudero JM, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Tizzano E, Natera-de Benito D and Ortez-Gonzalez CI.
Patrón clínico y evolución de la enfermedad de Charcot-Marie-Tooth en pediatría.
MEDICINA-BUENOS AIRES . 86 Suppl 3: 1-6.
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Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G
Journal of Neuromuscular Diseases . : .
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Pitarch-Castellano I, Ortez-Gonzalez CI, Nascimento-Osorio A, Aguilera López P, Blanco Barca MO, Camacho-Salas A, García-Campos O, García-Jiménez MC, García-Romero M, Gómez-Andrés D, Grimalt-Calatayud MA, Hernández-Fabián A, Málaga-Diéguez I, Madruga-Garrido M, Marti-Carrera I, Martín-Viota L, Martínez-García MJ, Ramos-Fernández JM, Sánchez-Carpintero Abad R, Vázquez-Martín S and Giró-Perafita A.
Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain.
Neurologia . 41(6): 502007-502007.
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Maurino J, Carrera-García L, Castro-Fernández P, Málaga I, Nascimento-Osorio A and Saposnik G.
Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout
PLoS One . 21(6): .
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Moreno CAM, Fernandes TR, Camelo CG, Keller G, Di Pace F, Dousseau GC, Fonseca ATQSM, Campos ED, Anjos Lança APD, Artilheiro MC, Serafim da Silva AM, Paiva MA, Nascimento-Osorio A and Zanoteli E.
Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort
Journal of Neuromuscular Diseases . : . Nº de cites: 1
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Gómez-Andrés, D, Munell, F, Pascual, SIP, López, MV, Cols M, Campos, OG, Garrido, C, Grimalt, MA, Hernandez, A, Madruga-Garrido, M, Medina J, Molera C, Moreno, T, Cabello, BM, Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.
Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis
NEUROLOGIA . 41(4): .
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Gómez-Andrés D, Munell F, Pascual Pascual SI, Vázquez López M, Cols M, García Campos O, Garrido C, Antonia Grimalt M, Hernandez A, Madruga-Garrido M, Medina J, Molera C, Moreno T, Muñoz Cabello B, Nascimento-Osorio A, Pinillos-Pisón S and Ortez-Gonzalez CI.
Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis.
Neurologia . 41(4): 501935-501935.
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Cicala, G, Capasso, A, Villa, M, Coratti, G, Arpaia, C, Agosto, C, Corti, S, Ricci, F, Bruno, C, Matesanz, S, Gross, B, Mendoza, DG, Kuntz, N, Kirschner, J, Ziegler, A, Servais, L, Asselman, FL, van der Pol, L, Castiglioni, C, Nascimento-Osorio A, Tizzano E, Mendonça, RH, Zanoteli, E, Munot, P, Scoto, M, Finkel, R, Pane, M, Tiziano, FD and Mercuri, E.
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study
EClinicalMedicine . 95: .
