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Items: 1 to 50 of 69

1.

Photoacoustic ratiometric assessment of mitoxantrone release from theranostic ICG-conjugated mesoporous silica nanoparticles.

Ferrauto G, Carniato F, Di Gregorio E, Botta M, Tei L.

Nanoscale. 2019 Oct 10;11(39):18031-18036. doi: 10.1039/c9nr06524e.

PMID:
31570915
2.

Gadolinium Retention in Erythrocytes and Leukocytes From Human and Murine Blood Upon Treatment With Gadolinium-Based Contrast Agents for Magnetic Resonance Imaging.

Di Gregorio E, Furlan C, Atlante S, Stefania R, Gianolio E, Aime S.

Invest Radiol. 2019 Sep 9. doi: 10.1097/RLI.0000000000000608. [Epub ahead of print]

PMID:
31503081
3.

Spinocerebellar Ataxia Type 38.

Brusco A, Di Gregorio E, Borroni B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Jul 11.

4.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P.

Medicina (Kaunas). 2019 Jul 7;55(7). pii: E345. doi: 10.3390/medicina55070345.

5.

Development and characterization of lanthanide-HPDO3A-C16-based micelles as CEST-MRI contrast agents.

Ferrauto G, Beauprez F, Di Gregorio E, Carrera C, Aime S, Terreno E, Delli Castelli D.

Dalton Trans. 2019 Apr 16;48(16):5343-5351. doi: 10.1039/c8dt04621b.

PMID:
30942212
6.

Use of FCC-NMRD relaxometry for early detection and characterization of ex-vivo murine breast cancer.

Di Gregorio E, Ferrauto G, Lanzardo S, Gianolio E, Aime S.

Sci Rep. 2019 Mar 15;9(1):4624. doi: 10.1038/s41598-019-41154-9.

7.

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Orsi L, Costanzi C, Ferrero M, Tempia F, Caruso D, Padovani A, Brusco A, Borroni B.

Parkinsonism Relat Disord. 2019 Jun;63:191-194. doi: 10.1016/j.parkreldis.2019.02.040. Epub 2019 Mar 7.

PMID:
30862453
8.

Food quality and nutraceutical value of nine cultivars of mango (Mangifera indica L.) fruits grown in Mediterranean subtropical environment.

Gentile C, Di Gregorio E, Di Stefano V, Mannino G, Perrone A, Avellone G, Sortino G, Inglese P, Farina V.

Food Chem. 2019 Mar 30;277:471-479. doi: 10.1016/j.foodchem.2018.10.109. Epub 2018 Oct 23.

PMID:
30502173
9.

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.

Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A.

Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. No abstract available.

PMID:
30460677
10.

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F.

Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.

PMID:
30389403
11.

CEST-MRI for glioma pH quantification in mouse model: Validation by immunohistochemistry.

Ferrauto G, Di Gregorio E, Auboiroux V, Petit M, Berger F, Aime S, Lahrech H.

NMR Biomed. 2018 Nov;31(11):e4005. doi: 10.1002/nbm.4005. Epub 2018 Sep 5.

PMID:
30256478
12.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A.

Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.

PMID:
30098094
13.

Generation of multiparametric MRI maps by using Gd-labelled- RBCs reveals phenotypes and stages of murine prostate cancer.

Ferrauto G, Di Gregorio E, Lanzardo S, Ciolli L, Iezzi M, Aime S.

Sci Rep. 2018 Jul 12;8(1):10567. doi: 10.1038/s41598-018-28926-5.

14.

Gd accumulation in tissues of healthy mice upon repeated administrations of Gadodiamide and Gadoteridol.

Di Gregorio E, Iani R, Ferrauto G, Nuzzi R, Aime S, Gianolio E.

J Trace Elem Med Biol. 2018 Jul;48:239-245. doi: 10.1016/j.jtemb.2018.04.018. Epub 2018 Apr 21.

PMID:
29773187
15.

CEST-MRI studies of cells loaded with lanthanide shift reagents.

Ferrauto G, Di Gregorio E, Delli Castelli D, Aime S.

Magn Reson Med. 2018 Oct;80(4):1626-1637. doi: 10.1002/mrm.27157. Epub 2018 Mar 7.

16.

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A.

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

PMID:
29462666
17.

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.

Hoxha E, Gabriele RMC, Balbo I, Ravera F, Masante L, Zambelli V, Albergo C, Mitro N, Caruso D, Di Gregorio E, Brusco A, Borroni B, Tempia F.

Front Cell Neurosci. 2017 Oct 30;11:343. doi: 10.3389/fncel.2017.00343. eCollection 2017.

18.

The Issue of Gadolinium Retained in Tissues: Insights on the Role of Metal Complex Stability by Comparing Metal Uptake in Murine Tissues Upon the Concomitant Administration of Lanthanum- and Gadolinium-Diethylentriamminopentaacetate.

Di Gregorio E, Ferrauto G, Furlan C, Lanzardo S, Nuzzi R, Gianolio E, Aime S.

Invest Radiol. 2018 Mar;53(3):167-172. doi: 10.1097/RLI.0000000000000423.

PMID:
28990973
19.

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B.

Ann Neurol. 2017 Oct;82(4):615-621. doi: 10.1002/ana.25059. Epub 2017 Oct 22.

20.

Gadolinium Retention in the Rat Brain: Assessment of the Amounts of Insoluble Gadolinium-containing Species and Intact Gadolinium Complexes after Repeated Administration of Gadolinium-based Contrast Agents.

Gianolio E, Bardini P, Arena F, Stefania R, Di Gregorio E, Iani R, Aime S.

Radiology. 2017 Dec;285(3):839-849. doi: 10.1148/radiol.2017162857. Epub 2017 Sep 4.

PMID:
28873047
21.

Enzyme-Responsive LipoCEST Agents: Assessment of MMP-2 Activity by Measuring the Intra-liposomal Water 1 H NMR Shift.

Ferrauto G, Di Gregorio E, Ruzza M, Catanzaro V, Padovan S, Aime S.

Angew Chem Int Ed Engl. 2017 Sep 25;56(40):12170-12173. doi: 10.1002/anie.201706271. Epub 2017 Aug 25.

PMID:
28746744
22.

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, Brusco A.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. No abstract available.

PMID:
28473625
23.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB.

Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

PMID:
28295210
24.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Sirchia F, Di Gregorio E, Restagno G, Grosso E, Pappi P, Talarico F, Savin E, Cavalieri S, Giorgio E, Mancini C, Pasini B, Mehta JS, Brusco A.

Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.

25.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.

Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19.

26.

Large photoacoustic effect enhancement for ICG confined inside MCM-41 mesoporous silica nanoparticles.

Ferrauto G, Carniato F, Di Gregorio E, Tei L, Botta M, Aime S.

Nanoscale. 2017 Jan 7;9(1):99-103. doi: 10.1039/c6nr08282c. Epub 2016 Dec 9.

PMID:
27934996
27.

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L.

Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27.

28.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.

Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.

29.

Mesoporous silica nanoparticles functionalized with fluorescent and MRI reporters for the visualization of murine tumors overexpressing αvβ3 receptors.

Hu H, Arena F, Gianolio E, Boffa C, Di Gregorio E, Stefania R, Orio L, Baroni S, Aime S.

Nanoscale. 2016 Apr 7;8(13):7094-104. doi: 10.1039/c5nr08878j.

30.

LipoCEST and cellCEST imaging agents: opportunities and challenges.

Ferrauto G, Delli Castelli D, Di Gregorio E, Terreno E, Aime S.

Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2016 Jul;8(4):602-18. doi: 10.1002/wnan.1385. Epub 2016 Jan 26. Review.

PMID:
26810631
31.

Re-evaluation of the water exchange lifetime value across red blood cell membrane.

Gianolio E, Ferrauto G, Di Gregorio E, Aime S.

Biochim Biophys Acta. 2016 Apr;1858(4):627-31. doi: 10.1016/j.bbamem.2015.12.029. Epub 2015 Dec 30.

32.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.

Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A.

Cytogenet Genome Res. 2015;147(1):10-6. doi: 10.1159/000442308. Epub 2015 Dec 12.

33.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A.

Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1.

34.

Sensitive MRI detection of internalized T1 contrast agents using magnetization transfer contrast.

Delli Castelli D, Ferrauto G, Di Gregorio E, Terreno E, Aime S.

NMR Biomed. 2015 Dec;28(12):1663-70. doi: 10.1002/nbm.3423. Epub 2015 Oct 16.

35.

An MRI Method To Map Tumor Hypoxia Using Red Blood Cells Loaded with a pO2-Responsive Gd-Agent.

Di Gregorio E, Ferrauto G, Gianolio E, Lanzardo S, Carrera C, Fedeli F, Aime S.

ACS Nano. 2015 Aug 25;9(8):8239-48. doi: 10.1021/acsnano.5b02604. Epub 2015 Aug 10.

36.

MEMRI and tumors: a method for the evaluation of the contribution of Mn(II) ions in the extracellular compartment.

Gianolio E, Arena F, Di Gregorio E, Pagliarin R, Delbianco M, Baio G, Aime S.

NMR Biomed. 2015 Sep;28(9):1104-10. doi: 10.1002/nbm.3349. Epub 2015 Jul 14.

PMID:
26174622
37.

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

Mandrile G, Di Gregorio E, Goel H, Giachino D, De Mercanti S, Iudicello M, Rolando M, Losa S, De Marchi M, Brusco A.

Cerebellum. 2016 Apr;15(2):208-12. doi: 10.1007/s12311-015-0679-3. No abstract available.

38.

Gd-loaded-RBCs for the assessment of tumor vascular volume by contrast-enhanced-MRI.

Ferrauto G, Di Gregorio E, Dastrù W, Lanzardo S, Aime S.

Biomaterials. 2015 Jul;58:82-92. doi: 10.1016/j.biomaterials.2015.04.026. Epub 2015 May 11.

PMID:
25941785
39.

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.

BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0.

40.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.

J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.

41.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

42.

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A.

Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.

43.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.

Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.

44.

Frequency-encoded MRI-CEST agents based on paramagnetic liposomes/RBC aggregates.

Ferrauto G, Di Gregorio E, Baroni S, Aime S.

Nano Lett. 2014 Dec 10;14(12):6857-62. doi: 10.1021/nl5026612. Epub 2014 Nov 10.

PMID:
25371974
45.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.

46.

Probing protein conformation in cells by EPR distance measurements using Gd3+ spin labeling.

Martorana A, Bellapadrona G, Feintuch A, Di Gregorio E, Aime S, Goldfarb D.

J Am Chem Soc. 2014 Sep 24;136(38):13458-65. doi: 10.1021/ja5079392. Epub 2014 Sep 11.

PMID:
25163412
47.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A.

Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

48.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12.

PMID:
24819041
49.

Chemical exchange saturation transfer (CEST): an efficient tool for detecting molecular information on proteins' behaviour.

Longo DL, Di Gregorio E, Abategiovanni R, Ceccon A, Assfalg M, Molinari H, Aime S.

Analyst. 2014 Jun 7;139(11):2687-90. doi: 10.1039/c4an00346b.

PMID:
24733370
50.

Gd loading by hypotonic swelling: an efficient and safe route for cellular labeling.

Di Gregorio E, Ferrauto G, Gianolio E, Aime S.

Contrast Media Mol Imaging. 2013 Nov-Dec;8(6):475-86. doi: 10.1002/cmmi.1574.

PMID:
24375903

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