Masnada, Silvia

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

L-serine treatment in patients with GRIN -related encephalopathy: a phase 2A, non-randomized study

Juliá-Palacios, N., Olivella, M., Sigatullina Bondarenko, M., Ibáñez-Micó, S., Muñoz-Cabello, B., Alonso-Luengo, O., Soto-Insuga, V., García-Navas, D., Cuesta-Herraiz, L., Andreo-Lillo, P., et al. (2024) · Brain

Genetics and Neurodevelopmental DisordersMetabolism and Genetic Disorders

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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Bonaventura, E., Alberti, L., Lucchi, S., Cappelletti, L., Fazzone, S., Cattaneo, E., Bellini, M., Izzo, G., Parazzini, C., Bosetti, A., et al. (2023) · Frontiers in Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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