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Stefano Duga

19962019
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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

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

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

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis

Cardamone, G., Paraboschi, E. M., Soldà, G., Cantoni, C., Supino, D., Piccio, L., Duga, S. & Asselta, R., May 1 2019, In : Human Molecular Genetics. 28, 9, p. 1414-1428 15 p.

Research output: Contribution to journal › Article

Long Noncoding RNA
Multiple Sclerosis
Alternative Splicing
Neoplasms
Autoimmune Diseases

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