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Items: 1 to 20 of 98

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.

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 GP, Bresolin N, Duga S, Di Fonzo A.

Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.

PMID:
30850329
4.

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.

5.

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.

6.

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.

7.

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
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.

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

de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE.

Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25.

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.

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Perez Carrion M, Pischedda F, Biosa A, Russo I, Straniero L, Civiero L, Guida M, Gloeckner CJ, Ticozzi N, Tiloca C, Mariani C, Pezzoli G, Duga S, Pichler I, Pan L, Landers JE, Greggio E, Hess MW, Goldwurm S, Piccoli G.

Front Mol Neurosci. 2018 Feb 28;11:64. doi: 10.3389/fnmol.2018.00064. 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.

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.

14.

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
15.

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.

16.

2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.

Straniero V, Zanotto C, Straniero L, Casiraghi A, Duga S, Radaelli A, De Giuli Morghen C, Valoti E.

ChemMedChem. 2017 Aug 22;12(16):1303-1318. doi: 10.1002/cmdc.201700201. Epub 2017 Jul 11.

PMID:
28586174
17.

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.

18.

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.

19.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE.

Sci Transl Med. 2017 May 3;9(388). pii: eaad9157. doi: 10.1126/scitranslmed.aad9157.

20.

A frequent oligogenic involvement in congenital hypothyroidism.

de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L.

Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145.

PMID:
28444304

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