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Items: 50

1.

A common transcriptomic program acquired in the thymus defines tissue residency of MAIT and NKT subsets.

Salou M, Legoux F, Gilet J, Darbois A, du Halgouet A, Alonso R, Richer W, Goubet AG, Daviaud C, Menger L, Procopio E, Premel V, Lantz O.

J Exp Med. 2018 Dec 5. pii: jem.20181483. doi: 10.1084/jem.20181483. [Epub ahead of print]

PMID:
30518599
2.

Clinical profile and outcome of cardiac involvement in MELAS syndrome.

Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, Procopio E, Pasquini E, Donati MA.

Int J Cardiol. 2018 Oct 23. pii: S0167-5273(18)34949-0. doi: 10.1016/j.ijcard.2018.10.051. [Epub ahead of print]

PMID:
30482630
3.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A.

J Neurol. 2018 Oct 31. doi: 10.1007/s00415-018-9084-4. [Epub ahead of print]

PMID:
30382391
4.

Macrophage CD31 Signaling in Dissecting Aortic Aneurysm.

Andreata F, Syvannarath V, Clement M, Delbosc S, Guedj K, Fornasa G, Khallou-Laschet J, Morvan M, Even G, Procopio E, Gaston AT, Le Borgne M, Deschamps L, Nicoletti A, Caligiuri G.

J Am Coll Cardiol. 2018 Jul 3;72(1):45-57. doi: 10.1016/j.jacc.2018.04.047.

PMID:
29957231
5.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM.

Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8.

PMID:
29423566
6.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R.

Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec.

7.

Sol-gel TiO2 colloidal suspensions and nanostructured thin films: structural and biological assessments.

Procopio EQ, Colombo V, Santo N, Sironi A, Lenardi C, Maggioni D.

Nanotechnology. 2018 Feb 2;29(5):055704. doi: 10.1088/1361-6528/aa9ca0.

PMID:
29176062
8.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.

Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314.

9.

The complete mitochondrial genome of the grooved carpet shell, Ruditapes decussatus (Bivalvia, Veneridae).

Ghiselli F, Milani L, Iannello M, Procopio E, Chang PL, Nuzhdin SV, Passamonti M.

PeerJ. 2017 Aug 22;5:e3692. doi: 10.7717/peerj.3692. eCollection 2017.

10.

A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

Frisso G, Gelzo M, Procopio E, Sica C, Lenza MP, Dello Russo A, Donati MA, Salvatore F, Corso G.

Mol Genet Metab. 2017 Aug;121(4):329-335. doi: 10.1016/j.ymgme.2017.06.013. Epub 2017 Jun 27.

PMID:
28673550
11.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.

Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.

PMID:
28577204
12.

Neuroimaging Changes in Menkes Disease, Part 1.

Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases.

AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. Review.

13.

Neuroimaging Changes in Menkes Disease, Part 2.

Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases.

AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. Review.

14.

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C.

Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15.

PMID:
28442211
15.

Concentrations of polychlorinated dibenzodioxins, polychlorodibenzofurans, and polychlorobiphenyls in women of reproductive age in Italy: A human biomonitoring study.

Ingelido AM, Abate V, Abballe A, Albano FL, Battista T, Carraro V, Conversano M, Corvetti R, De Luca S, Franchini S, Fulgenzi AR, Giambanco L, Iacovella N, Iamiceli AL, Maiorana A, Maneschi F, Marra V, Pirola F, Porpora MG, Procopio E, Suma N, Valentini S, Valsenti L, Vecchiè V, De Felip E.

Int J Hyg Environ Health. 2017 Apr;220(2 Pt B):378-386. doi: 10.1016/j.ijheh.2016.11.009. Epub 2016 Nov 24.

PMID:
27908667
16.

[Population health surveillance of the general population living near Turin (Northern Italy) incinerator (SPoTT): methodology of the study].

Bena A, Chiusolo M, Orengia M, Cadum E, Farina E, Musmeci L, Procopio E, Salamina G; Gruppo di lavoro SPoTT; Gruppo di lavoro SPoTT .

Epidemiol Prev. 2016 Sep-Oct;40(5):366-373. Italian.

PMID:
27764934
17.

Biomonitoring and exposure assessment of people living near or working at an Italian waste incinerator: methodology of the SPoTT study.

Bena A, Orengia M, Cadum E, Farina E, Alimonti A, Bocca B, Chiusolo M, De Felip E, Gandini M, Iamiceli AL, Pino A, Procopio E, Salamina G; SPoTT group.

Environ Monit Assess. 2016 Nov;188(11):607. Epub 2016 Oct 6.

PMID:
27714597
18.

Teaching NeuroImages: Spinal cord gray matter involvement in complex I deficiency mitochondriopathy.

Mascalchi M, Bartolini E, Bianchi A, Gulino P, Procopio E.

Neurology. 2016 Sep 6;87(10):e106-7. doi: 10.1212/WNL.0000000000003061. No abstract available.

PMID:
27597559
19.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R; CDG Group.

Dev Med Child Neurol. 2016 Oct;58(10):1085-91. doi: 10.1111/dmcn.13141. Epub 2016 May 13.

20.

Human biomonitoring of metals in adults living near a waste-to-energy incinerator in ante-operam phase: Focus on reference values and health-based assessments.

Bocca B, Bena A, Pino A, D'Aversa J, Orengia M, Farina E, Salamina G, Procopio E, Chiusolo M, Gandini M, Cadum E, Musmeci L, Alimonti A.

Environ Res. 2016 Jul;148:338-350. doi: 10.1016/j.envres.2016.04.013. Epub 2016 Apr 22.

PMID:
27107710
21.

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E.

PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016.

22.

Current exposure of Italian women of reproductive age to PFOS and PFOA: A human biomonitoring study.

De Felip E, Abballe A, Albano FL, Battista T, Carraro V, Conversano M, Franchini S, Giambanco L, Iacovella N, Ingelido AM, Maiorana A, Maneschi F, Marra V, Mercurio A, Nale R, Nucci B, Panella V, Pirola F, Porpora MG, Procopio E, Suma N, Valentini S, Valsenti L, Vecchiè V.

Chemosphere. 2015 Oct;137:1-8. doi: 10.1016/j.chemosphere.2015.03.046. Epub 2015 May 15.

PMID:
25965289
23.

Infantile-Onset Pompe Disease: The Care Beyond the Cure.

Astrea G, Perazza S, Frosini S, Moretti E, Sacchini M, Dati E, Pecini C, Procopio E, Santorelli FM, Donati MA, Battini R.

J Neuromuscul Dis. 2015;2(s1):S58-S59. No abstract available.

PMID:
27858649
24.

Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.

Sacchini M, Procopio E, Pasquini E, Pochiero F, Ombrone D, LaMarca G, Catarzi S, Morrone A, Donati MA.

J Neuromuscul Dis. 2015;2(s1):S53. No abstract available.

PMID:
27858645
25.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.

Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.

PMID:
25545067
26.

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

Rosati A, Berti B, Melani F, Cellini E, Procopio E, Guerrini R.

Dev Med Child Neurol. 2015 Aug;57(8):777-9. doi: 10.1111/dmcn.12644. Epub 2014 Nov 20.

27.

Dinuclear rhenium complexes as redox-active pendants in a novel electrodeposited polycyclopentadithiophene material.

Procopio EQ, Bonometti V, Panigati M, Mercandelli P, Mussini PR, Benincori T, D'Alfonso G, Sannicolò F.

Inorg Chem. 2014 Oct 20;53(20):11242-51. doi: 10.1021/ic501840p. Epub 2014 Oct 6.

PMID:
25285663
28.

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Tomanin R, Zanetti A, D'Avanzo F, Rampazzo A, Gasparotto N, Parini R, Pascarella A, Concolino D, Procopio E, Fiumara A, Borgo A, Frigo AC, Scarpa M.

Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1.

29.
30.

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A.

JIMD Rep. 2012;6:31-7. doi: 10.1007/8904_2012_125. Epub 2012 Feb 24.

31.

[Human biomonitoring and variation of haematic parameters in a population exposed to PCB and dioxin near a steel plant in the lower Susa Valley].

Chiusolo M, Ivaldi C, Procopio E, Greco GM, Lodato M, Cadum E.

Epidemiol Prev. 2012 Sep-Oct;36(5 Suppl 4):24-33. Italian.

32.

Antitumor effects of EGFR antisense guanidine-based peptide nucleic acids in cancer models.

Thomas SM, Sahu B, Rapireddy S, Bahal R, Wheeler SE, Procopio EM, Kim J, Joyce SC, Contrucci S, Wang Y, Chiosea SI, Lathrop KL, Watkins S, Grandis JR, Armitage BA, Ly DH.

ACS Chem Biol. 2013 Feb 15;8(2):345-52. doi: 10.1021/cb3003946. Epub 2012 Nov 9.

33.

Study of the incorporation and release of the non-conventional half-sandwich ruthenium(II) metallodrug RAPTA-C on a robust MOF.

Procopio EQ, Rojas S, Padial NM, Galli S, Masciocchi N, Linares F, Miguel D, Oltra JE, Navarro JA, Barea E.

Chem Commun (Camb). 2011 Nov 14;47(42):11751-3. doi: 10.1039/c1cc14594k. Epub 2011 Sep 28.

34.

Capture of nerve agents and mustard gas analogues by hydrophobic robust MOF-5 type metal-organic frameworks.

Montoro C, Linares F, Procopio EQ, Senkovska I, Kaskel S, Galli S, Masciocchi N, Barea E, Navarro JA.

J Am Chem Soc. 2011 Aug 10;133(31):11888-91. doi: 10.1021/ja2042113. Epub 2011 Jul 20.

PMID:
21761835
35.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

36.

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M.

J Inherit Metab Dis. 2011 Jun;34(3):763-80. doi: 10.1007/s10545-011-9317-5. Epub 2011 Apr 5.

PMID:
21465231
37.

Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Pela I, Donati MA, Procopio E, Fiorini P.

Pediatr Nephrol. 2008 Jan;23(1):155-8. Epub 2007 Aug 16.

PMID:
17701224
38.

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PMID:
17403714
39.

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A.

Hum Mutat. 2007 Feb;28(2):204.

PMID:
17221873
40.

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

la Marca G, Malvagia S, Pasquini E, Donati MA, Gasperini S, Procopio E, Zammarchi E.

Rapid Commun Mass Spectrom. 2005;19(6):863-4. No abstract available.

PMID:
15723447
41.

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E; Italian MTS Study Group.

J Med Genet. 2005 Feb;42(2):e9. No abstract available.

42.

Birth weight for gestational age centiles for Italian neonates.

Festini F, Procopio E, Taccetti G, Repetto T, Cioni ML, Campana S, Mergni G, Mascherini M, Marianelli L, de Martino M.

J Matern Fetal Neonatal Med. 2004 Jun;15(6):411-7.

PMID:
15280114
43.

Early Pseudomonas aeruginosa colonisation in cystic fibrosis patients.

Taccetti G, Repetto T, Procopio E, Farina S, Campana S.

Lancet. 2002 Feb 16;359(9306):625-6. No abstract available.

PMID:
11867138
44.

Allergic bronchopulmonary aspergillosis in Italian cystic fibrosis patients: prevalence and percentage of positive tests in the employed diagnostic criteria.

Taccetti G, Procopio E, Marianelli L, Campana S; Italian Group for Cystic Fibrosis Microbiology.

Eur J Epidemiol. 2000;16(9):837-42.

PMID:
11297226
45.

[Bacterial infections and resistance to antibiotics in cystic fibrosis].

Taccetti G, Repetto T, Procopio E, Marianelli L, Campana S.

Pediatr Med Chir. 1999 Sep-Oct;21(5 Suppl):213-8. Review. Italian.

PMID:
10963010
46.

Autoantibodies against bactericidal/permeability-increasing protein in cystic fibrosis patients: comment on the article by Hoffman and Specks.

Taccetti G, Campana S, Marianelli L, Procopio E, Turchini S.

Arthritis Rheum. 1999 Jun;42(6):1305-6. No abstract available.

47.

Human herpesvirus-7 infection in a patient with systemic lupus erythematosus.

Taccetti G, Repetto T, Marianelli L, Campana S, Falcini F, Procopio E.

Clin Exp Rheumatol. 1999 Jan-Feb;17(1):126. No abstract available.

PMID:
10084051
48.

[Cerebral venous thrombosis in a child with iron deficiency anemia caused by food allergy].

Repetto T, Materassi D, Procopio E, Novembre E.

Pediatr Med Chir. 1997 Mar-Apr;19(2):133-4. Italian.

PMID:
9312749
49.

[Efficacy of steroid therapy in a case of hepatic hemangioendothelioma in childhood].

Repetto T, Procopio E, Materassi D, Favilli S, Jenuso R.

Pediatr Med Chir. 1996 Mar-Apr;18(2):213-5. Italian.

PMID:
8767589
50.

[Clinical and physiopathological significance of pneumatocele in pulmonary pathology in children].

Novembre E, Cianferoni A, Zammarchi E, Natoli G, Procopio E, Vierucci A.

Pediatr Med Chir. 1996 Mar-Apr;18(2):181-6. Italian.

PMID:
8767582

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