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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: russo cv. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A. Romanello M, et al. Among authors: russo cv. Clin Chim Acta. 2016 Apr 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11. Clin Chim Acta. 2016. PMID: 26790753
Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study.
Russo C, Cocozza S, Riccio E, Pontillo G, Petruzzelli LA, Lanzillo R, Spinelli L, Colomba P, Duro G, Imbriaco M, Russo CV, De Riso G, Di Risi T, Tedeschi E, Cuocolo A, Brunetti A, Morra VB, Cocozza S, Pisani A. Russo C, et al. Among authors: russo cv. J Neurol Sci. 2020 May 15;412:116782. doi: 10.1016/j.jns.2020.116782. Epub 2020 Mar 19. J Neurol Sci. 2020. PMID: 32234567
Prevalence and features of non-motor symptoms in Wilson's disease.
Palmieri GR, De Michele G, Matarazzo M, Di Dato F, Perillo S, Dello Iacovo DCP, Cuomo N, Pane C, Russo CV, Iorio R, De Michele G, De Rosa A. Palmieri GR, et al. Among authors: russo cv. Parkinsonism Relat Disord. 2022 Feb;95:103-106. doi: 10.1016/j.parkreldis.2022.01.016. Epub 2022 Jan 21. Parkinsonism Relat Disord. 2022. PMID: 35093711
Cognitive trajectories in multiple sclerosis: a long-term follow-up study.
Carotenuto A, Costabile T, Pontillo G, Moccia M, Falco F, Petracca M, Petruzzo M, Russo CV, Di Stasi M, Paolella C, Perillo T, Vola EA, Cipullo MB, Cocozza S, Lanzillo R, Brescia Morra V, Saccà F. Carotenuto A, et al. Among authors: russo cv. Neurol Sci. 2022 Feb;43(2):1215-1222. doi: 10.1007/s10072-021-05356-2. Epub 2021 Jun 8. Neurol Sci. 2022. PMID: 34105018 Free PMC article.
72 results