Canafoglia, Laura

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., et al. (2012) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchLysosomal Storage Disorders Research

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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

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., et al. (2013) · Human Molecular Genetics

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Canafoglia, L., Morbin, M., Scaioli, V., Pareyson, D., D'Incerti, L., Fugnanesi, V., Tagliavini, F., Berkovic, S. F., & Franceschetti, S. (2014) · Epilepsia

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Mosca, R., van de Vlekkert, D., Campos, Y., Fremuth, L. E., Cadaoas, J., Koppaka, V., Kakkis, E., Tifft, C., Toro, C., Allievi, S., et al. (2020) · Journal of Clinical Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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