Efficacy of the ketogenic diet in children and adolescents with refractory epilepsy in a tertiary hospital
Itzep, D, López, F, Baide, H, Guio, L, Ramírez, A, Aparicio, J, Campistol, J, Arzimanoglou, Alexis, San Antonio, V
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
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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Journal Article
P.168Clinical spectrum and histopathological characterization of alpha-dystroglycanopathies
Bobadilla, E., Codina, A., Jou, C., Natera, D., Carrera, L., Ortez, C., Yubero, D., Martorell, L., Gonzalez, L., Gallano, P., Exposito, J., Corbera, J., Itzep, D., Colomer, J., Jimenenez-Mallebrera, C., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish population
Natera-de Benito, D., Alarcon, M., Borrás, A., Armas, J., Frongia, A., Itzep, D., Vigo, M., Medina, J., Ortez, C., Colomer, J., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.118 - Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish population
Natera-de Benito, D., Alarcon, M., Borrás, A., Armas, J., Frongia, A., Itzep, D., Vigo, M., Medina, J., Ortez, C., Colomer, J., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K : Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy
Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., Itzep, D., Natera, D., Frongia, A., Codina, A., Gonzalez, L., Pia, G., Straub, V., Jimenez-Mallebrera, C., Colomer, J.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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X-Linked myotubular myopathy (XLMTM): phenotypic variability
Ortez, C., Natera, D., Colomer, J., Itzep, D., Alarcón, M., Frongia, A., Jou, C., Codina, A., Jimenez-Mallebrera, C., Martorell, L., Biancalana, V., González, L., Gallano, P., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene
Nascimento, A., Ortez, C., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Jimenez – Mallebrera, C., Rodriguez, M., González, L., Gallano, P., Colomer, J.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.44 - A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene
Nascimento, A., Ortez, C., Colomer, J., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Rodriguez, M., Rodriguez, M., González, L., Gallano, P., Sacher, M., Topf, A., Straub, V., Jimenez-Mallebrera, C.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
RYR1 -related myopathies: A wide range of clinical phenotypes and pathological histotypes
Frongia, A., Ortez, C., Natera, D., Itzep, D. Cortiza, Alarcón, M., Maioli, M., Suarez, A. Maritza Betancourt, Jou, C., Codina, A., Corbera, J., Gonzalez, L., Gallano, P., Colomer, J., Jimenez-Mallebrera, C., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene
Nascimento, A., Ortez, C., Colomer, J., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Rodriguez, M., González, L., Gallano, P., Sacher, M., Topf, A., Straub, V., Jimenez-Mallebrera, C.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.40 - Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sjögren syndrome and dystroglycanopathy
Nascimento, A., Ortez, C., Jou, C., Alarcón, M., Bates, A., Topf, A., Itzep, D., Natera, D., Frongia, A., Codina, A., Gonzalez, L., Pia, G., Straub, V., Jimenez-Mallebrera, C., Colomer, J.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.419 - Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene
Nascimento, A., Ortez, C., Natera, D., Frongia, A., Alarcon, M., Itzep, D., Jou, C., Codina, A., Corbera, J., Jimenez – Mallebrera, C., Rodriguez, M., González, L., Gallano, P., Colomer, J.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.249 - X-Linked myotubular myopathy (XLMTM): phenotypic variability
Ortez, C., Natera, D., Colomer, J., Itzep, D., Alarcón, M., Frongia, A., Jou, C., Codina, A., Jimenez-Mallebrera, C., Martorell, L., Biancalana, V., González, L., Gallano, P., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.481 - RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypes
Frongia, A., Ortez, C., Natera, D., Itzep, D. Cortiza, Alarcón, M., Maioli, M., Suarez, A. Maritza Betancourt, Jou, C., Codina, A., Corbera, J., Gonzalez, L., Gallano, P., Colomer, J., Jimenez-Mallebrera, C., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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