20162016

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2016

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

Filosto, M., Aureli, M., Castellotti, B., Rinaldi, F., Schiumarini, D., Valsecchi, M., Lualdi, S., Mazzotti, R., Pensato, V., Rota, S., Gellera, C., Filocamo, M. & Padovani, A., Mar 30 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle