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Page 1
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14.
Mov Disord. 2024.
PMID: 37964426
Free PMC article.
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: parolin schnekenberg r.
Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print.
Brain. 2024.
PMID: 38193360
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium; Valentine R, Packham E, Evans J, Seller A, Ragoussis J.
Németh AH, et al. Among authors: parolin schnekenberg r.
Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.
Brain. 2013.
PMID: 24030952
Free PMC article.
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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH.
Parolin Schnekenberg R, et al.
Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16.
Brain. 2015.
PMID: 25981959
Free PMC article.
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