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2009 1
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2018 3
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17 results

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Page 1
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: cavalcanti f. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
Splicing: is there an alternative contribution to Parkinson's disease?
La Cognata V, D'Agata V, Cavalcanti F, Cavallaro S. La Cognata V, et al. Among authors: cavalcanti f. Neurogenetics. 2015 Oct;16(4):245-63. doi: 10.1007/s10048-015-0449-x. Epub 2015 May 16. Neurogenetics. 2015. PMID: 25980689 Free PMC article. Review.
Expanding the global prevalence of spinocerebellar ataxia type 42.
Ngo K, Aker M, Petty LE, Chen J, Cavalcanti F, Nelson AB, Hassin-Baer S, Geschwind MD, Perlman S, Italiano D, Laganà A, Cavallaro S, Coppola G, Below JE, Fogel BL. Ngo K, et al. Among authors: cavalcanti f. Neurol Genet. 2018 Apr 5;4(3):e232. doi: 10.1212/NXG.0000000000000232. eCollection 2018 Jun. Neurol Genet. 2018. PMID: 29629410 Free PMC article. No abstract available.
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh.
De Benedittis S, Spadafora P, Gaspari M, Qualtieri G, Gallo O, Di Palma G, Cavalcanti F, Citrigno L, Qualtieri A. De Benedittis S, et al. Among authors: cavalcanti f. Clin Chem Lab Med. 2023 Jun 12;61(12):e251-e254. doi: 10.1515/cclm-2023-0442. Print 2023 Nov 27. Clin Chem Lab Med. 2023. PMID: 37307396 No abstract available.
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.
La Cognata V, Morello G, Gentile G, Cavalcanti F, Cittadella R, Conforti FL, De Marco EV, Magariello A, Muglia M, Patitucci A, Spadafora P, D'Agata V, Ruggieri M, Cavallaro S. La Cognata V, et al. Among authors: cavalcanti f. Curr Genomics. 2018 Sep;19(6):431-443. doi: 10.2174/1389202919666180404105451. Curr Genomics. 2018. PMID: 30258275 Free PMC article.
17 results