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Page 1
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Soresina A, Micheli R, Magnani M. Menotta M, et al. Among authors: chessa l. Orphanet J Rare Dis. 2017 Jul 5;12(1):126. doi: 10.1186/s13023-017-0669-2. Orphanet J Rare Dis. 2017. PMID: 28679388 Free PMC article.
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Plebani A, Soresina A, Magnani M. Menotta M, et al. Among authors: chessa l. Mol Cell Biochem. 2018 Jan;438(1-2):153-166. doi: 10.1007/s11010-017-3122-x. Epub 2017 Jul 25. Mol Cell Biochem. 2018. PMID: 28744812 Clinical Trial.
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.
Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M. Leuzzi V, et al. Among authors: chessa l. Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun. Neurol Neuroimmunol Neuroinflamm. 2015. PMID: 25884015 Free PMC article.
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M. Chessa L, et al. Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5. Orphanet J Rare Dis. 2014. PMID: 24405665 Free PMC article. Clinical Trial.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. Among authors: chessa l. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.
Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V, Finocchi A, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L. Zannolli R, et al. Among authors: chessa l. Mov Disord. 2012 Sep 1;27(10):1312-6. doi: 10.1002/mds.25126. Epub 2012 Aug 23. Mov Disord. 2012. PMID: 22927201 Clinical Trial.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: chessa l. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
Norman-Roberts syndrome: clinical and molecular studies.
Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L. Iannetti P, et al. Among authors: chessa l. Am J Med Genet. 1993 Aug 1;47(1):95-9. doi: 10.1002/ajmg.1320470120. Am J Med Genet. 1993. PMID: 8368261 Review.
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
Cirillo E, Polizzi A, Soresina A, Prencipe R, Giardino G, Cancrini C, Finocchi A, Rivalta B, Dellepiane RM, Baselli LA, Montin D, Trizzino A, Consolini R, Azzari C, Ricci S, Lodi L, Quinti I, Milito C, Leonardi L, Duse M, Carrabba M, Fabio G, Bertolini P, Coccia P, D'Alba I, Pession A, Conti F, Zecca M, Lunardi C, Bianco ML, Presti S, Sciuto L, Micheli R, Bruzzese D, Lougaris V, Badolato R, Plebani A, Chessa L, Pignata C. Cirillo E, et al. Among authors: chessa l. J Clin Immunol. 2022 May;42(4):783-797. doi: 10.1007/s10875-022-01234-4. Epub 2022 Mar 8. J Clin Immunol. 2022. PMID: 35257272 Free PMC article.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Among authors: chessa l. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
Lougaris V, Pession A, Baronio M, Soresina A, Rondelli R, Gazzurelli L, Benvenuto A, Martino S, Gattorno M, Biondi A, Zecca M, Marinoni M, Fabio G, Aiuti A, Marseglia G, Putti MC, Agostini C, Lunardi C, Tommasini A, Bertolini P, Gambineri E, Consolini R, Matucci A, Azzari C, Danieli MG, Paganelli R, Duse M, Cancrini C, Moschese V, Chessa L, Spadaro G, Civino A, Vacca A, Cardinale F, Martire B, Carpino L, Trizzino A, Russo G, Cossu F, Badolato R, Pietrogrande MC, Quinti I, Rossi P, Ugazio A, Pignata C, Plebani A. Lougaris V, et al. Among authors: chessa l. J Clin Immunol. 2020 Oct;40(7):1026-1037. doi: 10.1007/s10875-020-00844-0. Epub 2020 Aug 15. J Clin Immunol. 2020. PMID: 32803625 Free PMC article.
Centrosomal Che-1 protein is involved in the regulation of mitosis and DNA damage response by mediating pericentrin (PCNT)-dependent Chk1 protein localization.
Sorino C, Bruno T, Desantis A, Di Certo MG, Iezzi S, De Nicola F, Catena V, Floridi A, Chessa L, Passananti C, Cundari E, Fanciulli M. Sorino C, et al. Among authors: chessa l. J Biol Chem. 2013 Aug 9;288(32):23348-57. doi: 10.1074/jbc.M113.465302. Epub 2013 Jun 24. J Biol Chem. 2013. PMID: 23798705 Free PMC article.
Role of senataxin in DNA damage and telomeric stability.
De Amicis A, Piane M, Ferrari F, Fanciulli M, Delia D, Chessa L. De Amicis A, et al. Among authors: chessa l. DNA Repair (Amst). 2011 Feb 7;10(2):199-209. doi: 10.1016/j.dnarep.2010.10.012. Epub 2010 Nov 26. DNA Repair (Amst). 2011. PMID: 21112256
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
Cirillo E, Giardino G, Ricci S, Moschese V, Lougaris V, Conti F, Azzari C, Barzaghi F, Canessa C, Martire B, Badolato R, Dotta L, Soresina A, Cancrini C, Finocchi A, Montin D, Romano R, Amodio D, Ferrua F, Tommasini A, Baselli LA, Dellepiane RM, Polizzi A, Chessa L, Marzollo A, Cicalese MP, Putti MC, Pession A, Aiuti A, Locatelli F, Plebani A, Pignata C. Cirillo E, et al. Among authors: chessa l. J Allergy Clin Immunol. 2020 Nov;146(5):967-983. doi: 10.1016/j.jaci.2020.08.010. Epub 2020 Aug 19. J Allergy Clin Immunol. 2020. PMID: 32827505
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N. Loconte DC, et al. Among authors: chessa l. PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015. PLoS One. 2015. PMID: 25915946 Free PMC article.
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Among authors: chessa l. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
230 results