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Fingerprint Dive into the research topics where Raffaella Mazzotti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Myoclonic Epilepsy Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Multiplex Polymerase Chain Reaction Medicine & Life Sciences
Amplification Chemical Compounds
Pseudogenes Medicine & Life Sciences
Genes Chemical Compounds
Alleles Medicine & Life Sciences

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Research Output 2016 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

Myoclonic Epilepsy
Spinal Muscular Atrophy
Farber Lipogranulomatosis
Gaucher Disease
Multiplex Polymerase Chain Reaction