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Page 1
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E. Ferreira M, et al. Among authors: castana c. Neurogenetics. 2011 Feb;12(1):9-17. doi: 10.1007/s10048-010-0265-2. Epub 2011 Jan 4. Neurogenetics. 2011. PMID: 21203893
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: castana c. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Clinical manifestations and management of four children with Pearson syndrome.
Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittalà A, Lo Nigro L, Russo G, Di Cataldo A. Tumino M, et al. Among authors: castana c. Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19. Am J Med Genet A. 2011. PMID: 22012855
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P. Duro G, et al. Among authors: castana c. Int J Mol Sci. 2018 Nov 23;19(12):3726. doi: 10.3390/ijms19123726. Int J Mol Sci. 2018. PMID: 30477121 Free PMC article.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: castana c. Rheumatology (Oxford). 2020 Feb 1;59(2):458. doi: 10.1093/rheumatology/kez376. Rheumatology (Oxford). 2020. PMID: 31410474 No abstract available.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: castana c. Rheumatology (Oxford). 2020 Feb 1;59(2):344-360. doi: 10.1093/rheumatology/kez270. Rheumatology (Oxford). 2020. PMID: 31325311