• 784 Citations
  • 18 h-Index
20072019
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Fingerprint Dive into the research topics where Lucia Micale is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Williams Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Ubiquitin-Protein Ligases Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
MicroRNAs Medicine & Life Sciences
Autophagy Medicine & Life Sciences

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Research Output 2007 2019

  • 784 Citations
  • 18 h-Index
  • 49 Article
  • 1 Chapter
3 Citations (Scopus)

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Palumbo, P., Petracca, A., Maggi, R., Biagini, T., Nardella, G., Sacco, M. C., Di Schiavi, E., Carella, M., Micale, L. & Castori, M., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

MAP Kinase Signaling System
Fibroblast Growth Factor 2
Holoprosencephaly
Exome
Autophagy
1 Citation (Scopus)

AQP4 aggregation state is a determinant for glioma cell fate

Simone, L., Pisani, F., Mola, M. G., De Bellis, M., Merla, G., Micale, L., Frigeri, A., Vescovi, A. L., Svelto, M. & Nicchia, G. P., Jan 1 2019, In : Cancer Research. 79, 9, p. 2182-2194 13 p.

Research output: Contribution to journalArticle

Aquaporin 4
Glioma
Actin Cytoskeleton
Protein Isoforms
Cell Membrane

Characterization of two novel intronic variants affecting splicing in FBN1-related disorders

Fusco, C., Morlino, S., Micale, L., Ferraris, A., Grammatico, P. & Castori, M., Jun 1 2019, In : Genes. 10, 6, 442.

Research output: Contribution to journalArticle

Open Access
Marfan Syndrome
Ectopia Lentis
Aortic Diseases
Nonsense Codon
Computer Simulation
Molecular Pathology
Workflow
Blood Vessels
Databases
Genetic Association Studies
1 Citation (Scopus)

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants

Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, D'Agruma, L. & Castori, M., Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.

Research output: Contribution to journalArticle

Multiple Hereditary Exostoses
Genetic Association Studies
Osteochondroma
Cell Cycle Proteins
Heparitin Sulfate