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Items: 24

1.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

2.

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.

Gilberti M, Baruffini E, Donnini C, Dallabona C.

PLoS One. 2018 Oct 1;13(10):e0205014. doi: 10.1371/journal.pone.0205014. eCollection 2018.

3.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

4.

[Medicine and Nephrology from Social Networks].

Montinaro V, Cianciotta F, Colucci V, D'Ettorre G, Gallo P, Gilberti M, Gintoli E, Matino S, Mercurio U, Montinaro A, Villani C.

G Ital Nefrol. 2018 May;35(3). pii: 2018-vol3. Italian. No abstract available.

PMID:
29786182
5.

[Medicine and Nephrology from Social Networks].

Montinaro V, Covella B, D'Ettorre G, Fiorentino M, Gilberti M, Matino S, Montinaro A, Taurisano M, Villani C.

G Ital Nefrol. 2018 Mar;35(2). pii: 2018-vol2. Italian. No abstract available.

PMID:
29582956
6.

Serum Non-Ceruloplasmin Non-Albumin Copper Elevation in Mild Cognitive Impairment and Dementia due to Alzheimer's Disease: A Case Control Study.

Rozzini L, Lanfranchi F, Pilotto A, Catalani S, Gilberti ME, Paganelli M, Apostoli P, Padovani A.

J Alzheimers Dis. 2018;61(3):907-912. doi: 10.3233/JAD-170552.

PMID:
29332043
7.

Free copper in serum: An analytical challenge and its possible applications.

Catalani S, Paganelli M, Gilberti ME, Rozzini L, Lanfranchi F, Padovani A, Apostoli P.

J Trace Elem Med Biol. 2018 Jan;45:176-180. doi: 10.1016/j.jtemb.2017.11.006. Epub 2017 Nov 8.

8.

Evaluation of the immature platelet fraction contribute to the differential diagnosis of hereditary, immune and other acquired thrombocytopenias.

Ferreira FLB, Colella MP, Medina SS, Costa-Lima C, Fiusa MML, Costa LNG, Orsi FA, Annichino-Bizzacchi JM, Fertrin KY, Gilberti MFP, Ozelo MC, De Paula EV.

Sci Rep. 2017 Jun 13;7(1):3355. doi: 10.1038/s41598-017-03668-y.

9.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.

JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.

10.

Trace elements and diabetes: Assessment of levels in tears and serum.

Cancarini A, Fostinelli J, Napoli L, Gilberti ME, Apostoli P, Semeraro F.

Exp Eye Res. 2017 Jan;154:47-52. doi: 10.1016/j.exer.2016.10.020. Epub 2016 Oct 29.

PMID:
27984016
11.

Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload?

Rausa M, Pagani A, Nai A, Campanella A, Gilberti ME, Apostoli P, Camaschella C, Silvestri L.

PLoS One. 2015 Apr 10;10(4):e0122696. doi: 10.1371/journal.pone.0122696. eCollection 2015.

12.

Vanadium release in whole blood, serum and urine of patients implanted with a titanium alloy hip prosthesis.

Catalani S, Stea S, Beraudi A, Gilberti ME, Bordini B, Toni A, Apostoli P.

Clin Toxicol (Phila). 2013 Aug;51(7):550-6. doi: 10.3109/15563650.2013.818682. Epub 2013 Jul 11.

PMID:
23845123
13.

[Health risk assessment of exposure to metals in the workers of the steel foundry and in the general population of Taranto (Italy)].

Soleo L, Lovreglio P, Panuzzo L, D'Errico MN, Basso A, Gilberti ME, Drago I, Tomasi C, Apostoli P.

G Ital Med Lav Ergon. 2012 Oct-Dec;34(4):381-91. Italian.

PMID:
23477104
14.

Environmental factors affecting the urinary excretion of inorganic arsenic in the general population.

Lovreglio P, D'Errico MN, De Pasquale P, Gilberti ME, Drago I, Panuzzo L, Lepera A, Serra R, Ferrara F, Basso A, Apostoli P, Soleo L.

Med Lav. 2012 Sep-Oct;103(5):372-81.

PMID:
23077797
15.

The influence of diet on intra and inter-individual variability of urinary excretion of arsenic species in Italian healthy individuals.

Lovreglio P, D'Errico MN, Gilberti ME, Drago I, Basso A, Apostoli P, Soleo L.

Chemosphere. 2012 Mar;86(9):898-905. doi: 10.1016/j.chemosphere.2011.10.050. Epub 2011 Nov 21.

PMID:
22104336
16.

[Potential and usefulness of the analysis of metallic elements in blood platelets].

Catalani S, Marini M, Consolandi O, Gilberti ME, Apostoli P.

G Ital Med Lav Ergon. 2008 Apr-Jun;30(2):115-8. Italian.

PMID:
19068858
17.

Significance of urinary arsenic speciation in assessment of seafood ingestion as the main source of organic and inorganic arsenic in a population resident near a coastal area.

Soleo L, Lovreglio P, Iavicoli S, Antelmi A, Drago I, Basso A, Di Lorenzo L, Gilberti ME, De Palma G, Apostoli P.

Chemosphere. 2008 Sep;73(3):291-9. doi: 10.1016/j.chemosphere.2008.06.030. Epub 2008 Jul 26.

PMID:
18657289
18.

Organ-specific manganese toxicity: a comparative in vitro study on five cellular models exposed to MnCl(2).

Rovetta F, Catalani S, Steimberg N, Boniotti J, Gilberti ME, Mariggiò MA, Mazzoleni G.

Toxicol In Vitro. 2007 Mar;21(2):284-92. Epub 2006 Sep 6.

PMID:
17055213
19.

A device for zone-II flexor tendon repair. Surgical technique.

Su BW, Solomons M, Barrow A, Senoge ME, Gilberti M, Lubbers L, Diao E, Quitkin HM, Grafe MW, Rosenwasser MP.

J Bone Joint Surg Am. 2006 Mar;88 Suppl 1 Pt 1:37-49. Review.

PMID:
16510799
20.

Device for zone-II flexor tendon repair. A multicenter, randomized, blinded, clinical trial.

Su BW, Solomons M, Barrow A, Senoge ME, Gilberti M, Lubbers L, Diao E, Quitkin HM, Rosenwasser MP.

J Bone Joint Surg Am. 2005 May;87(5):923-35.

PMID:
15866953
21.

[Evaluation of sources of mercury absorption through studying urinary mercury levels in the general population].

Montomoli L, Sisinni AG, Cioni F, Barabesi L, Gilberti ME, Festa D, Sartorelli P.

Med Lav. 2002 May-Jun;93(3):184-8. Italian.

PMID:
12197268
22.
23.

Four-extremity radiation necrosis. Surgical management.

Schenck RR, Gilberti MV.

Arch Surg. 1970 Jun;100(6):729-34. No abstract available.

PMID:
5444495
24.

Hydrocortisone and/or desiccated thyroid in physiologic dosage. VII. Pituitary-adrenocortical and thyroidal function.

DANOWSKI TS, MOSES C, BORECKY DC, BALASH WR, BONESSI JV, GILBERTI MV.

Metabolism. 1962 Jul;11:705-15. No abstract available.

PMID:
13883469

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