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Page 1
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: buoni s. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S. Khaikin Y, et al. Among authors: buoni s. Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16. Eur J Paediatr Neurol. 2018. PMID: 29506905
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y. Dhanraj S, et al. Among authors: buoni s. J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4. J Med Genet. 2015. PMID: 26342108
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E. Cordelli DM, et al. Among authors: buoni s. Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322667
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: buoni s. 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.
Endoscopic management of congenital esophageal stenosis.
Romeo E, Foschia F, de Angelis P, Caldaro T, Federici di Abriola G, Gambitta R, Buoni S, Torroni F, Pardi V, Dall'oglio L. Romeo E, et al. Among authors: buoni s. J Pediatr Surg. 2011 May;46(5):838-41. doi: 10.1016/j.jpedsurg.2011.02.010. J Pediatr Surg. 2011. PMID: 21616237
Epilepsy in Rett syndrome: clinical and genetic features.
Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: buoni s. Epilepsy Behav. 2010 Nov;19(3):296-300. doi: 10.1016/j.yebeh.2010.06.051. Epub 2010 Aug 21. Epilepsy Behav. 2010. PMID: 20728410 Free article.
65 results