Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 27

1.

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

Corrado L, Pensato V, Croce R, Di Pierro A, Mellone S, Dalla Bella E, Salsano E, Paraboschi EM, Giordano M, Saraceno M, Mazzini L, Gellera C, D'Alfonso S.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Dec 18:1-7. doi: 10.1080/21678421.2019.1704011. [Epub ahead of print]

PMID:
31852254
2.

Mycobacterium tuberculosis Drives Expansion of Low-Density Neutrophils Equipped With Regulatory Activities.

La Manna MP, Orlando V, Paraboschi EM, Tamburini B, Di Carlo P, Cascio A, Asselta R, Dieli F, Caccamo N.

Front Immunol. 2019 Nov 27;10:2761. doi: 10.3389/fimmu.2019.02761. eCollection 2019.

3.

Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease.

Paraboschi EM, Khera AV, Merlini PA, Gigante L, Peyvandi F, Chaffin M, Menegatti M, Busti F, Girelli D, Martinelli N, Olivieri O, Kathiresan S, Ardissino D, Asselta R, Duga S.

Haematologica. 2019 Nov 7. pii: haematol.2019.237750. doi: 10.3324/haematol.2019.237750. [Epub ahead of print]

4.

Profiling the mutational landscape of coagulation factor V deficiency.

Paraboschi EM, Menegatti M, Rimoldi V, Borhany M, Abdelwahab M, Gemmati D, Peyvandi F, Duga S, Asselta R.

Haematologica. 2020 Apr;105(4):e180-e185. doi: 10.3324/haematol.2019.232587. Epub 2019 Aug 8. No abstract available.

5.

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.

Paraboschi EM, Menegatti M, Peyvandi F, Duga S, Asselta R.

Int J Mol Sci. 2019 Feb 20;20(4). pii: E910. doi: 10.3390/ijms20040910.

6.

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions.

Paraboschi EM, Cardamone G, Soldà G, Duga S, Asselta R.

Front Genet. 2018 Dec 17;9:647. doi: 10.3389/fgene.2018.00647. eCollection 2018.

7.

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients.

Cardamone G, Paraboschi EM, Soldà G, Duga S, Saarela J, Asselta R.

Biomedicines. 2018 Dec 18;6(4). pii: E117. doi: 10.3390/biomedicines6040117.

8.

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 EM, Soldà G, Cantoni C, Supino D, Piccio L, Duga S, Asselta R.

Hum Mol Genet. 2019 May 1;28(9):1414-1428. doi: 10.1093/hmg/ddy438.

PMID:
30566690
9.

Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly.

Todisco M, Fraccia TP, Smith GP, Corno A, Bethge L, Klussmann S, Paraboschi EM, Asselta R, Colombo D, Zanchetta G, Clark NA, Bellini T.

ACS Nano. 2018 Oct 23;12(10):9750-9762. doi: 10.1021/acsnano.8b05821. Epub 2018 Oct 3.

10.

Newtonian to non-newtonian fluid transition of a model transient network.

Nava G, Yang T, Vitali V, Minzioni P, Cristiani I, Bragheri F, Osellame R, Bethge L, Klussmann S, Paraboschi EM, Asselta R, Bellini T.

Soft Matter. 2018 May 2;14(17):3288-3295. doi: 10.1039/c8sm00373d.

PMID:
29691545
11.

Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.

Tisato V, Zuliani G, Vigliano M, Longo G, Franchini E, Secchiero P, Zauli G, Paraboschi EM, Vikram Singh A, Serino ML, Ortolani B, Zurlo A, Bosi C, Greco A, Seripa D, Asselta R, Gemmati D.

PLoS One. 2018 Mar 8;13(3):e0193867. doi: 10.1371/journal.pone.0193867. eCollection 2018.

12.

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Paraboschi EM, Duga S, Asselta R.

Int J Mol Sci. 2017 Dec 14;18(12). pii: E2711. doi: 10.3390/ijms18122711.

13.

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

Rimoldi V, Paraboschi EM, Menegatti M, Peyvandi F, Salomon O, Duga S, Asselta R.

Haemophilia. 2018 Mar;24(2):e50-e55. doi: 10.1111/hae.13378. Epub 2017 Nov 27. No abstract available.

PMID:
29178608
14.

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Asselta R, Paraboschi EM, Rimoldi V, Menegatti M, Peyvandi F, Salomon O, Duga S.

Blood. 2017 Jul 27;130(4):e1-e6. doi: 10.1182/blood-2017-04-780148. Epub 2017 Jun 14.

PMID:
28615222
15.

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

Cardamone G, Paraboschi EM, Rimoldi V, Duga S, Soldà G, Asselta R.

Int J Mol Sci. 2017 Mar 7;18(3). pii: E576. doi: 10.3390/ijms18030576.

16.

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

Paraboschi EM, Cardamone G, Rimoldi V, Duga S, Soldà G, Asselta R.

Biochim Biophys Acta Gen Subj. 2017 May;1861(5 Pt A):1046-1056. doi: 10.1016/j.bbagen.2017.02.016. Epub 2017 Feb 14.

PMID:
28212793
17.

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

Paraboschi EM, Cardamone G, Rimoldi V, Gemmati D, Spreafico M, Duga S, Soldà G, Asselta R.

Int J Mol Sci. 2015 Sep 30;16(10):23463-81. doi: 10.3390/ijms161023463.

18.

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.

Nuzzo F, Paraboschi EM, Straniero L, Pavlova A, Duga S, Castoldi E.

Haemophilia. 2015 Jan;21(1):140-7. doi: 10.1111/hae.12536. Epub 2014 Nov 30.

PMID:
25438872
19.

Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women.

Biguzzi E, Franchi F, Acaia B, Ossola W, Nava U, Paraboschi EM, Asselta R, Peyvandi F.

Haemophilia. 2014 Nov;20(6):e377-83. doi: 10.1111/hae.12514. Epub 2014 Oct 21.

PMID:
25333208
20.

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

Paraboschi EM, Rimoldi V, Soldà G, Tabaglio T, Dall'Osso C, Saba E, Vigliano M, Salviati A, Leone M, Benedetti MD, Fornasari D, Saarela J, De Jager PL, Patsopoulos NA, D'Alfonso S, Gemmati D, Duga S, Asselta R.

Hum Mol Genet. 2014 Dec 20;23(25):6746-61. doi: 10.1093/hmg/ddu392. Epub 2014 Jul 30.

PMID:
25080502
21.

Phase behavior and critical activated dynamics of limited-valence DNA nanostars.

Biffi S, Cerbino R, Bomboi F, Paraboschi EM, Asselta R, Sciortino F, Bellini T.

Proc Natl Acad Sci U S A. 2013 Sep 24;110(39):15633-7. doi: 10.1073/pnas.1304632110. Epub 2013 Sep 9.

22.

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients.

Paraboschi EM, Soldà G, Gemmati D, Orioli E, Zeri G, Benedetti MD, Salviati A, Barizzone N, Leone M, Duga S, Asselta R.

Int J Mol Sci. 2011;12(12):8695-712. doi: 10.3390/ijms12128695. Epub 2011 Dec 1.

23.

Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia.

Mirandola L, Chiriva-Internati M, Montagna D, Locatelli F, Zecca M, Ranzani M, Basile A, Locati M, Cobos E, Kast WM, Asselta R, Paraboschi EM, Comi P, Chiaramonte R.

J Pathol. 2012 Apr;226(5):713-22. doi: 10.1002/path.3015. Epub 2011 Dec 9.

PMID:
21984373
24.

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency.

Paraboschi EM, Kayiran SM, Özbek N, Gürakan B, Peyvandi F, Guella I, Duga S, Asselta R.

Haemophilia. 2012 Mar;18(2):205-10. doi: 10.1111/j.1365-2516.2011.02621.x. Epub 2011 Jul 21.

PMID:
21777354
25.

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

Cagliani R, Fumagalli M, Guerini FR, Riva S, Galimberti D, Comi GP, Agliardi C, Scarpini E, Pozzoli U, Forni D, Caputo D, Asselta R, Biasin M, Paraboschi EM, Bresolin N, Clerici M, Sironi M.

Hum Genet. 2012 Jan;131(1):87-97. doi: 10.1007/s00439-011-1053-2. Epub 2011 Jul 7.

26.

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Guella I, Paraboschi EM, van Schalkwyk WA, Asselta R, Duga S.

Thromb Haemost. 2011 Aug;106(2):296-303. doi: 10.1160/TH11-03-0149. Epub 2011 May 26.

PMID:
21614419
27.

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R.

Haematologica. 2008 Oct;93(10):1505-13. doi: 10.3324/haematol.12934. Epub 2008 Aug 25.

Supplemental Content

Loading ...
Support Center