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Items: 1 to 20 of 110

1.

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. 2019 Aug 8. pii: haematol.2019.232587. doi: 10.3324/haematol.2019.232587. [Epub ahead of print]

2.

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

Weyand AC, Grzegorski SJ, Rost MS, Lavik KI, Ferguson AC, Menegatti M, Richter CE, Asselta R, Duga S, Peyvandi F, Shavit JA.

Blood Adv. 2019 Jun 11;3(11):1670-1680. doi: 10.1182/bloodadvances.2018029066.

3.

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.

4.

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.

5.

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.

6.

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
7.

The immunobiology of female predominance in primary biliary cholangitis.

Gerussi A, Cristoferi L, Carbone M, Asselta R, Invernizzi P.

J Autoimmun. 2018 Dec;95:124-132. doi: 10.1016/j.jaut.2018.10.015. Epub 2018 Oct 25. Review.

PMID:
30509386
8.

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Straniero L, Rimoldi V, Soldà G, Bellini M, Biasucci G, Asselta R, Duga S.

Front Genet. 2018 Oct 10;9:464. doi: 10.3389/fgene.2018.00464. eCollection 2018.

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.

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 FA, Mauri L, Ciampa MG, Schiumarini D, Bassi R, Giussani P, Chiricozzi E, Prinetti A, Aureli M, Sonnino S.

FASEB J. 2018 Oct;32(10):5685-5702. doi: 10.1096/fj.201701512RR. Epub 2018 May 10.

PMID:
29746165
11.

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
12.

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.

13.

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.

14.

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Straniero L, Rimoldi V, Samarani M, Goldwurm S, Di Fonzo A, Krüger R, Deleidi M, Aureli M, Soldà G, Duga S, Asselta R.

Sci Rep. 2017 Oct 5;7(1):12702. doi: 10.1038/s41598-017-12973-5.

15.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S.

Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11.

PMID:
28892570
16.

Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.

Cilia R, Asselta R, Cereda E, Benfante R, Barbella G, Vallauri D, Marabini L, Fornasari D, Goldwurm S, Pezzoli G.

J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):323-324. doi: 10.1136/jnnp-2017-316235. Epub 2017 Jul 19. No abstract available.

PMID:
28724719
17.

Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium.

Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22.

18.

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.

19.

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

Chiereghin C, Robusto M, Mastrangelo A, Castorina P, Montini G, Giani M, Duga S, Asselta R, Soldà G.

PLoS One. 2017 Jun 1;12(6):e0178630. doi: 10.1371/journal.pone.0178630. eCollection 2017.

20.

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.

Nomura A, Won HH, Khera AV, Takeuchi F, Ito K, McCarthy S, Emdin CA, Klarin D, Natarajan P, Zekavat SM, Gupta N, Peloso GM, Borecki IB, Teslovich TM, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Carey DJ, Murray MF, Kirchner HL, Leader JB, Lavage DR, Manus JN, Hartze DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Juang JJ, Hsiung CA, Lin SY, Wang JS, Tada H, Kawashiri MA, Inazu A, Yamagishi M, Katsuya T, Nakashima E, Nakatochi M, Yamamoto K, Yokota M, Momozawa Y, Rotter JI, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer CJ, Abecasis GR, Saleheen D, Kubo M, Kato N, Ida Chen YD, Dewey FE, Kathiresan S.

Circ Res. 2017 Jun 23;121(1):81-88. doi: 10.1161/CIRCRESAHA.117.311145. Epub 2017 May 15.

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