To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.

Rubboli, G., Veggiotti, P., Pini, A., Berardinelli, A., Cantalupo, G., Bertini, E., Tiziano, F. D., D'Amico, A., Piazza, E., Abiusi, E., Fiori, S., Pasini, E., Darra, F., Gobbi, G., Michelucci, R., Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1, <<EPILEPSIA>>, 2015; (N/A): 1-7. [doi:10.1111/epi.12977] [http://hdl.handle.net/10807/66039]

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1

Tiziano, Francesco Danilo;Abiusi, Emanuela;
2015

Abstract

To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.
Inglese
Rubboli, G., Veggiotti, P., Pini, A., Berardinelli, A., Cantalupo, G., Bertini, E., Tiziano, F. D., D'Amico, A., Piazza, E., Abiusi, E., Fiori, S., Pasini, E., Darra, F., Gobbi, G., Michelucci, R., Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1, <<EPILEPSIA>>, 2015; (N/A): 1-7. [doi:10.1111/epi.12977] [http://hdl.handle.net/10807/66039]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/66039
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