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Stefano Duga

  • 5665 Citations
  • 32 h-Index
19962019
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  • 11 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Afibrinogenemia Medicine & Life Sciences
Fibrinogen Medicine & Life Sciences
Factor V Deficiency Medicine & Life Sciences
Factor V Medicine & Life Sciences
Factor XI Medicine & Life Sciences
Factor XI Deficiency Medicine & Life Sciences

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Research Output 1996 2019

  • 5665 Citations
  • 32 h-Index
  • 144 Article

Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis

Weyand, A. C., Grzegorski, S. J., Rost, M. S., Lavik, K. I., Ferguson, A. C., Menegatti, M., Richter, C. E., Asselta, R., Duga, S., Peyvandi, F. & Shavit, J. A., Jun 11 2019, In : Blood advances. 3, 11, p. 1670-1680 11 p.

Research output: Contribution to journal › Article

Open Access
Factor V
Zebrafish
Factor V Deficiency
Hemostasis
Hemostatics
1 Citation (Scopus)

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Monfrini, E., Straniero, L., Bonato, S., Monzio Compagnoni, G., Bordoni, A., Dilena, R., Rinchetti, P., Silipigni, R., Ronchi, D., Corti, S., Comi, G. P., Bresolin, N., Duga, S. & Di Fonzo, A., Jan 1 2019, In : Parkinsonism and Related Disorders. 63, p. 66-72

Research output: Contribution to journal › Article

Ataxia
Ranvier's Nodes
Spinocerebellar Degenerations
Induced Pluripotent Stem Cells
Mutation
1 Citation (Scopus)

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

Paraboschi, E. M., Menegatti, M., Peyvandi, F., Duga, S. & Asselta, R., Feb 20 2019, In : International Journal of Molecular Sciences. 20, 4, E910.

Research output: Contribution to journal › Article

Open Access
Factor V Deficiency
splicing
Factor V
Inherited Blood Coagulation Disorders
coagulation

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H. J., Gkazi, A. S., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L. M. A., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., Nov 1 2018, In : Neurobiology of Aging. 71, p. 266.e1-266.e10

Research output: Contribution to journal › Article

Phosphotransferases
Mutation
Missense Mutation
Phosphorylation
Exome
7 Citations (Scopus)

A lysosome–plasma membrane–sphingolipid axis linking lysosomal storage to cell growth arrest

Samarani, M., Loberto, N., Soldà, G., Straniero, L., Asselta, R., Duga, S., Lunghi, G., Zucca, F. A., Mauri, L., Ciampa, M. G., Schiumarini, D., Bassi, R., Giussani, P., Chiricozzi, E., Prinetti, A., Aureli, M. & Sonnino, S., Oct 1 2018, In : FASEB Journal. 32, 10, p. 5685-5702 18 p.

Research output: Contribution to journal › Article

Cell growth
Cell membranes
Fibroblasts
Cell Membrane
Sucrose