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Items: 1 to 50 of 68

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.

Does an imaging stress-test adds information to prognostic scores in patients with chest pain in the emergency department?

Innocenti F, Luzzi M, Donnini C, Zanobetti M, Tassinari I, Caldi F, Pini R.

Intern Emerg Med. 2018 May 29. doi: 10.1007/s11739-018-1882-2. [Epub ahead of print]

PMID:
29845517
5.

Gene variants and educational attainment in cannabis use: mediating role of DNA methylation.

Gerra MC, Jayanthi S, Manfredini M, Walther D, Schroeder J, Phillips KA, Cadet JL, Donnini C.

Transl Psychiatry. 2018 Jan 22;8(1):23. doi: 10.1038/s41398-017-0087-1.

6.

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.

7.

SOFA score in septic patients: incremental prognostic value over age, comorbidities, and parameters of sepsis severity.

Innocenti F, Tozzi C, Donnini C, De Villa E, Conti A, Zanobetti M, Pini R.

Intern Emerg Med. 2018 Apr;13(3):405-412. doi: 10.1007/s11739-017-1629-5. Epub 2017 Feb 10.

PMID:
28188577
8.

SOFA score and left ventricular systolic function as predictors of short-term outcome in patients with sepsis.

Innocenti F, Palmieri V, Guzzo A, Stefanone VT, Donnini C, Pini R.

Intern Emerg Med. 2018 Jan;13(1):51-58. doi: 10.1007/s11739-016-1579-3. Epub 2016 Dec 1.

PMID:
27909859
9.

Perceived parental care during childhood, ACTH, cortisol and nicotine dependence in the adult.

Gerra G, Manfredini M, Somaini L, Milano G, Ciccocioppo R, Donnini C.

Psychiatry Res. 2016 Nov 30;245:458-465. doi: 10.1016/j.psychres.2016.09.001. Epub 2016 Sep 6.

PMID:
27631565
10.

Sexual Dysfunction in Men Receiving Methadone Maintenance Treatment: Clinical History and Psychobiological Correlates.

Gerra G, Manfredini M, Somaini L, Maremmani I, Leonardi C, Donnini C.

Eur Addict Res. 2016;22(3):163-75. doi: 10.1159/000441470. Epub 2015 Nov 24.

PMID:
26595117
11.

Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions.

Tigano M, Ruotolo R, Dallabona C, Fontanesi F, Barrientos A, Donnini C, Ottonello S.

Nucleic Acids Res. 2015 Sep 30;43(17):8368-80. doi: 10.1093/nar/gkv765. Epub 2015 Aug 3.

12.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.

Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.

13.

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E.

Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Review.

14.

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.

Ardissone A, Lamantea E, Quartararo J, Dallabona C, Carrara F, Moroni I, Donnini C, Garavaglia B, Zeviani M, Uziel G.

JIMD Rep. 2015;20:95-101. doi: 10.1007/8904_2014_397. Epub 2015 Feb 1.

15.

High-frequency QRS analysis compared to conventional ST-segment analysis in patients with chest pain and normal ECG referred for exercise tolerance test.

Conti A, Alesi A, Aspesi G, De Bernardis N, Bianchi S, Coppa A, Donnini C, Grifoni C, Becucci A, Casula C.

Cardiol J. 2015;22(2):141-9. doi: 10.5603/CJ.a2015.0001. Epub 2015 Jan 15.

PMID:
25588537
16.

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T.

Mitochondrion. 2015 Jan;20:52-63. doi: 10.1016/j.mito.2014.11.003. Epub 2014 Nov 18.

17.

Hypertension and atrial fibrillation: prognostic aspects of troponin elevations in clinical practice.

Conti A, Alesi A, Trausi F, Scorpiniti M, Angeli E, Bigiarini S, Bianchi S, Donnini C, Lazzeretti D, Padeletti L.

Crit Pathw Cardiol. 2014 Dec;13(4):141-6. doi: 10.1097/HPC.0000000000000028.

PMID:
25396290
18.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW.

PLoS Genet. 2014 Jun 5;10(6):e1004424. doi: 10.1371/journal.pgen.1004424. eCollection 2014 Jun.

19.

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.

Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.

20.

Long-term prognostic value of stress echocardiography in patients presenting to the ED with spontaneous chest pain.

Innocenti F, Cerabona P, Donnini C, Conti A, Zanobetti M, Pini R.

Am J Emerg Med. 2014 Jul;32(7):731-6. doi: 10.1016/j.ajem.2014.03.026. Epub 2014 Mar 27.

PMID:
24768667
21.

Association between gene variants and response to buprenorphine maintenance treatment.

Gerra G, Somaini L, Leonardi C, Cortese E, Maremmani I, Manfredini M, Donnini C.

Psychiatry Res. 2014 Jan 30;215(1):202-7. doi: 10.1016/j.psychres.2013.11.001. Epub 2013 Nov 11.

PMID:
24274990
22.

Dysregulated responses to emotions among abstinent heroin users: correlation with childhood neglect and addiction severity.

Gerra G, Somaini L, Manfredini M, Raggi MA, Saracino MA, Amore M, Leonardi C, Cortese E, Donnini C.

Prog Neuropsychopharmacol Biol Psychiatry. 2014 Jan 3;48:220-8. doi: 10.1016/j.pnpbp.2013.10.011. Epub 2013 Oct 23.

PMID:
24161666
23.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M.

Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23.

24.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.

Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17.

25.

Psychobiological responses to unpleasant emotions in cannabis users.

Somaini L, Manfredini M, Amore M, Zaimovic A, Raggi MA, Leonardi C, Gerra ML, Donnini C, Gerra G.

Eur Arch Psychiatry Clin Neurosci. 2012 Feb;262(1):47-57. doi: 10.1007/s00406-011-0223-5. Epub 2011 Jul 20.

PMID:
21773812
26.

Promising medications for cocaine dependence treatment.

Somaini L, Donnini C, Raggi MA, Amore M, Ciccocioppo R, Saracino MA, Kalluppi M, Malagoli M, Gerra ML, Gerra G.

Recent Pat CNS Drug Discov. 2011 May 1;6(2):146-60. Review.

PMID:
21599628
27.

Supervised daily consumption, contingent take-home incentive and non-contingent take-home in methadone maintenance.

Gerra G, Saenz E, Busse A, Maremmani I, Ciccocioppo R, Zaimovic A, Gerra ML, Amore M, Manfredini M, Donnini C, Somaini L.

Prog Neuropsychopharmacol Biol Psychiatry. 2011 Mar 30;35(2):483-9. doi: 10.1016/j.pnpbp.2010.12.002. Epub 2010 Dec 10.

PMID:
21147192
28.

Adverse childhood experiences (ACEs), genetic polymorphisms and neurochemical correlates in experimentation with psychotropic drugs among adolescents.

Somaini L, Donnini C, Manfredini M, Raggi MA, Saracino MA, Gerra ML, Amore M, Leonardi C, Serpelloni G, Gerra G.

Neurosci Biobehav Rev. 2011 Aug;35(8):1771-8. doi: 10.1016/j.neubiorev.2010.11.008. Epub 2010 Dec 8. Review.

PMID:
21145351
29.

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

Dallabona C, Marsano RM, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I, Donnini C.

Hum Mol Genet. 2010 Mar 15;19(6):1098-107. doi: 10.1093/hmg/ddp581. Epub 2009 Dec 30.

PMID:
20042463
30.

Relevance of perceived childhood neglect, 5-HTT gene variants and hypothalamus-pituitary-adrenal axis dysregulation to substance abuse susceptibility.

Gerra G, Zaimovic A, Castaldini L, Garofano L, Manfredini M, Somaini L, Leonardi C, Gerra ML, Donnini C.

Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):715-22. doi: 10.1002/ajmg.b.31038.

PMID:
19824018
31.

Oxygen-dependent transcriptional regulator Hap1p limits glucose uptake by repressing the expression of the major glucose transporter gene RAG1 in Kluyveromyces lactis.

Bao WG, Guiard B, Fang ZA, Donnini C, Gervais M, Passos FM, Ferrero I, Fukuhara H, Bolotin-Fukuhara M.

Eukaryot Cell. 2008 Nov;7(11):1895-905. doi: 10.1128/EC.00018-08. Epub 2008 Sep 19.

32.

Adrenocorticotropic hormone and cortisol plasma levels directly correlate with childhood neglect and depression measures in addicted patients.

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'Agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Baroni C, Donnini C.

Addict Biol. 2008 Mar;13(1):95-104. doi: 10.1111/j.1369-1600.2007.00086.x. Epub 2008 Jan 14.

PMID:
18201294
33.

Childhood neglect and parental care perception in cocaine addicts: relation with psychiatric symptoms and biological correlates.

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Raggi MA, Donnini C.

Neurosci Biobehav Rev. 2009 Apr;33(4):601-10. Epub 2007 Aug 29.

PMID:
17904221
34.

Homovanillic acid (HVA) plasma levels inversely correlate with attention deficit-hyperactivity and childhood neglect measures in addicted patients.

Gerra G, Leonardi C, Cortese E, Zaimovic A, Dell'agnello G, Manfredini M, Somaini L, Petracca F, Caretti V, Saracino MA, Raggi MA, Donnini C.

J Neural Transm (Vienna). 2007;114(12):1637-47. Epub 2007 Aug 10.

PMID:
17690947
35.

KNQ1, a Kluyveromyces lactis gene encoding a transmembrane protein, may be involved in iron homeostasis.

Marchi E, Lodi T, Donnini C.

FEMS Yeast Res. 2007 Aug;7(5):715-21. Epub 2007 Apr 12.

36.

Human kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction.

Gerra G, Leonardi C, Cortese E, D'Amore A, Lucchini A, Strepparola G, Serio G, Farina G, Magnelli F, Zaimovic A, Mancini A, Turci M, Manfredini M, Donnini C.

Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):771-5.

PMID:
17373729
37.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M.

Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.

38.

Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1.

Baruffini E, Goffrini P, Donnini C, Lodi T.

FEMS Yeast Res. 2006 Dec;6(8):1235-42.

39.

Perceived parenting behavior in the childhood of cocaine users: relationship with genotype and personality traits.

Gerra G, Zaimovic A, Garofano L, Ciusa F, Moi G, Avanzini P, Talarico E, Gardini F, Brambilla F, Manfredini M, Donnini C.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):52-7.

PMID:
16972224
40.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.

Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.

PMID:
16582910
41.

Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients.

Gerra G, Garofano L, Pellegrini C, Bosari S, Zaimovic A, Moi G, Avanzini P, Talarico E, Gardini F, Donnini C.

Addict Biol. 2005 Sep;10(3):275-81.

PMID:
16109590
42.

Secretion of human serum albumin by Kluyveromyces lactis overexpressing KlPDI1 and KlERO1.

Lodi T, Neglia B, Donnini C.

Appl Environ Microbiol. 2005 Aug;71(8):4359-63.

43.
44.

Association of the serotonin transporter promoter polymorphism with smoking behavior among adolescents.

Gerra G, Garofano L, Zaimovic A, Moi G, Branchi B, Bussandri M, Brambilla F, Donnini C.

Am J Med Genet B Neuropsychiatr Genet. 2005 May 5;135B(1):73-8.

PMID:
15806583
45.

Serotonin transporter promoter polymorphism genotype is associated with temperament, personality traits and illegal drugs use among adolescents.

Gerra G, Garofano L, Castaldini L, Rovetto F, Zaimovic A, Moi G, Bussandri M, Branchi B, Brambilla F, Friso G, Donnini C.

J Neural Transm (Vienna). 2005 Oct;112(10):1397-410. Epub 2005 Jan 24.

PMID:
15666036
46.

Carboxylic acids permeases in yeast: two genes in Kluyveromyces lactis.

Lodi T, Fontanesi F, Ferrero I, Donnini C.

Gene. 2004 Sep 15;339:111-9.

PMID:
15363851
47.

Improved production of heterologous proteins by a glucose repression-defective mutant of Kluyveromyces lactis.

Donnini C, Farina F, Neglia B, Compagno MC, Uccelletti D, Goffrini P, Palleschi C.

Appl Environ Microbiol. 2004 May;70(5):2632-8.

48.

Analysis of monoamine oxidase A (MAO-A) promoter polymorphism in male heroin-dependent subjects: behavioural and personality correlates.

Gerra G, Garofano L, Bosari S, Pellegrini C, Zaimovic A, Moi G, Bussandri M, Moi A, Brambilla F, Mameli A, Pizzamiglio M, Donnini C.

J Neural Transm (Vienna). 2004 May;111(5):611-21. Epub 2004 Mar 19.

PMID:
15088154
49.

Association between low-activity serotonin transporter genotype and heroin dependence: behavioral and personality correlates.

Gerra G, Garofano L, Santoro G, Bosari S, Pellegrini C, Zaimovic A, Moi G, Bussandri M, Moi A, Brambilla F, Donnini C.

Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):37-42.

PMID:
15048645
50.

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM.

Hum Mol Genet. 2004 May 1;13(9):923-34. Epub 2004 Mar 11.

PMID:
15016764

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