• 647 Citations
  • 14 h-Index
20022018
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Fingerprint Dive into the research topics where Stefania Assereto is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 23 Similar Profiles
Mutation Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Glycogen Storage Disease Type IV Medicine & Life Sciences
Muscles Medicine & Life Sciences
Dystrophin Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output 2002 2018

  • 647 Citations
  • 14 h-Index
  • 29 Article
  • 1 Letter

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, M., Assereto, S., Baratto, S., Iacomino, M., Pedemonte, M., Diana, M. C., Ferretti, M., Broda, P., Minetti, C., Gazzerro, E., Madia, F., Bruno, C., Zara, F. & Fiorillo, C., Jun 2018, In : Journal of Human Genetics. 63, 6, p. 761-764 4 p.

Research output: Contribution to journalArticle

Exons
Reading Frames
Dystrophin
Genes
Phenotype

Inflammatory myopathy in a patient with collagen VI mutations

Papa, R., Fiorillo, C., Malattia, C., Minoia, F., Caorsi, R., Assereto, S., Iacomino, M., Savarese, M., Nigro, V., Bruno, C., Minetti, C. & Picco, P., Mar 4 2018, In : Scandinavian Journal of Rheumatology. 47, 2, p. 166-167 2 p.

Research output: Contribution to journalLetter

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M. & De Camilli, P., Jan 1 2016, In : Nature Cell Biology. 18, 1, p. 132 - 138 7 p.

Research output: Contribution to journalArticle

Cell Membrane
Oligodendroglia
Proteins
Fibroblasts
Leukoencephalopathies
26 Citations (Scopus)

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M. & De Camilli, P., Jan 1 2016, In : Nature Cell Biology. 18, 1, p. 132-138 7 p.

Research output: Contribution to journalArticle

Cell Membrane
Oligodendroglia
Proteins
Fibroblasts
Leukoencephalopathies

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy

Assereto, S., Piccirillo, R., Baratto, S., Scudieri, P., Fiorillo, C., Massacesi, M., Traverso, M., Galietta, L. J. V., Bruno, C., Minetti, C., Zara, F. & Gazzerro, E., Aug 1 2016, In : Laboratory Investigation. 96, 8, p. 862-871 10 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Ligases
Ubiquitin
Muscles
Dystrophin