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Items: 1 to 50 of 142

1.

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

Simurda T, Caccia S, Asselta R, Zolkova J, Stasko J, Skornova I, Snahnicanova Z, Loderer D, Lasabova Z, Kubisz P.

J Thromb Thrombolysis. 2019 Nov 11. doi: 10.1007/s11239-019-01991-x. [Epub ahead of print] No abstract available.

PMID:
31712947
2.

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]

3.

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]

4.

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.

5.

Balancing Container Closure Integrity and Aesthetics for Robust Aseptic or Sterile Vial Packaging System.

Oni Y, Song X, Schrader M, Kulshrestha A, Franck J, Asselta R, Flores-Crespo C, Mantri RV.

PDA J Pharm Sci Technol. 2019 May 17. pii: pdajpst.2018.009670. doi: 10.5731/pdajpst.2018.009670. [Epub ahead of print]

PMID:
31101708
6.

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.

7.

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.

8.

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.

9.

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
10.

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
11.

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.

12.

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.

13.

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.

14.

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
15.

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.

16.

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.

17.

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
18.

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.

19.

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
20.

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
21.

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.

22.

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
23.

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.

24.

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.

25.

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.

26.

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.

Khera AV, Won HH, Peloso GM, O'Dushlaine C, Liu D, Stitziel NO, Natarajan P, Nomura A, Emdin CA, Gupta N, Borecki IB, 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, Hartzel DN, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Lander ES, Rader DJ, Danesh J, Ardissino D, Gabriel S, Willer C, Abecasis GR, Saleheen D, Dewey FE, Kathiresan S; Myocardial Infarction Genetics Consortium, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium.

JAMA. 2017 Mar 7;317(9):937-946. doi: 10.1001/jama.2017.0972.

27.

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
28.

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Webb TR, Erdmann J, Stirrups KE, Stitziel NO, Masca NG, Jansen H, Kanoni S, Nelson CP, Ferrario PG, König IR, Eicher JD, Johnson AD, Hamby SE, Betsholtz C, Ruusalepp A, Franzén O, Schadt EE, Björkegren JL, Weeke PE, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kruppa J, Mahajan A, Scott RA, Willenborg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer C, El-Mokhtari NE, Franke A, Heilmann S, Hengstenberg C, Hoffmann P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Virtamo J, Nikpay M, Olivieri O, Provost S, AlQarawi A, Robertson NR, Akinsansya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Müller-Nurasyid M, Strauch K, Varga TV, Waldenberger M; Wellcome Trust Case Control Consortium, Zeng L, Chowdhury R, Salomaa V, Ford I, Jukema JW, Amouyel P, Kontto J; MORGAM Investigators, Nordestgaard BG, Ferrières J, Saleheen D, Sattar N, Surendran P, Wagner A, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader DJ, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Samani NJ, Schunkert H, Deloukas P, Kathiresan S; Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators.

J Am Coll Cardiol. 2017 Feb 21;69(7):823-836. doi: 10.1016/j.jacc.2016.11.056.

29.

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

Emdin CA, Khera AV, Natarajan P, Klarin D, Won HH, Peloso GM, Stitziel NO, Nomura A, Zekavat SM, Bick AG, Gupta N, Asselta R, Duga S, Merlini PA, Correa A, Kessler T, Wilson JG, Bown MJ, Hall AS, Braund PS, Samani NJ, Schunkert H, Marrugat J, Elosua R, McPherson R, Farrall M, Watkins H, Willer C, Abecasis GR, Felix JF, Vasan RS, Lander E, Rader DJ, Danesh J, Ardissino D, Gabriel S, Saleheen D, Kathiresan S; CHARGE–Heart Failure Consortium; CARDIoGRAM Exome Consortium.

J Am Coll Cardiol. 2016 Dec 27;68(25):2761-2772. doi: 10.1016/j.jacc.2016.10.033.

30.

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S.

Ann Neurol. 2016 Nov;80(5):662-673. doi: 10.1002/ana.24777. Epub 2016 Oct 3.

PMID:
27632223
31.

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

Straniero L, Soldà G, Costantino L, Seia M, Melotti P, Colombo C, Asselta R, Duga S.

J Hum Genet. 2016 Dec;61(12):977-984. doi: 10.1038/jhg.2016.101. Epub 2016 Aug 4.

PMID:
27488443
32.

Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease.

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

Parkinsonism Relat Disord. 2016 Aug;29:96-103. doi: 10.1016/j.parkreldis.2016.05.017. Epub 2016 May 17.

PMID:
27237108
33.

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H.

N Engl J Med. 2016 Mar 24;374(12):1134-44. doi: 10.1056/NEJMoa1507652. Epub 2016 Mar 2. Erratum in: N Engl J Med. 2016 May 12;374(19):1898. Erratum in: N Engl J Med. 2016 May 12;374(19):1898.

34.

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Soldà G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U, Duga S, Asselta R.

J Hum Genet. 2016 Apr;61(4):295-300. doi: 10.1038/jhg.2015.149. Epub 2015 Dec 10.

35.

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.

36.

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S.

J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.

37.

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Straniero L, Rimoldi V, Soldà G, Mauri L, Manfredini E, Andreucci E, Bargiacchi S, Penco S, Gesu GP, Del Longo A, Piozzi E, Asselta R, Primignani P.

J Hum Genet. 2015 Sep;60(9):467-71. doi: 10.1038/jhg.2015.56. Epub 2015 May 28.

PMID:
26016411
38.

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

Asselta R, Robusto M, Platé M, Santoro C, Peyvandi F, Duga S.

Thromb Res. 2015 Jul;136(1):168-74. doi: 10.1016/j.thromres.2015.05.007. Epub 2015 May 14.

PMID:
26006300
39.

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H.

PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb. Erratum in: PLoS Genet. 2015 Mar;11(3):e1005060.

40.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

41.

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.

Asselta R, Platè M, Robusto M, Borhany M, Guella I, Soldà G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S.

Thromb Haemost. 2015 Mar;113(3):567-76. doi: 10.1160/TH14-07-0629. Epub 2014 Nov 27.

PMID:
25427968
42.

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S.

N Engl J Med. 2014 Nov 27;371(22):2072-82. doi: 10.1056/NEJMoa1405386. Epub 2014 Nov 12.

43.

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
44.

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V.

Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8.

PMID:
25294124
45.

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S.

Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9.

46.

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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

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