• 1 Citations
  • 1 h-Index
20162016
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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.

  • 1 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

  • 1 Citations
  • 1 h-Index
  • 2 Article

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
Phenotype
Ceramides
Farber Lipogranulomatosis
1 Citation (Scopus)

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease

Amico, G., Grossi, S. M., Vijzelaar, R., Lanza, F., Mazzotti, R., Corsolini, F., Ketema, M. & Filocamo, M., Dec 1 2016, In : Molecular Genetics and Metabolism. 119, 4, p. 329-337 9 p.

Research output: Contribution to journalArticle

Gaucher Disease
Multiplex Polymerase Chain Reaction
Amplification
Pseudogenes
Genes