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Page 1
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD. Selvadurai LP, et al. Among authors: geschwind md. Cerebellum. 2023 Oct;22(5):790-809. doi: 10.1007/s12311-022-01424-1. Epub 2022 Aug 12. Cerebellum. 2023. PMID: 35962273 Free PMC article.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. Ashizawa T, et al. Among authors: geschwind md. Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177. Orphanet J Rare Dis. 2013. PMID: 24225362 Free PMC article.
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.
Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. Gan SR, et al. Among authors: geschwind md. Tremor Other Hyperkinet Mov (N Y). 2017 Oct 9;7:492. doi: 10.7916/D8GM8KRH. eCollection 2017. Tremor Other Hyperkinet Mov (N Y). 2017. PMID: 29057148 Free PMC article.
Dystonia and ataxia progression in spinocerebellar ataxias.
Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. Kuo PH, et al. Among authors: geschwind md. Parkinsonism Relat Disord. 2017 Dec;45:75-80. doi: 10.1016/j.parkreldis.2017.10.007. Epub 2017 Oct 23. Parkinsonism Relat Disord. 2017. PMID: 29089256 Free PMC article.
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: geschwind md. 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.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. Ngo KJ, et al. Among authors: geschwind dh, geschwind md. Hum Mutat. 2020 Feb;41(2):487-501. doi: 10.1002/humu.23946. Epub 2019 Nov 25. Hum Mutat. 2020. PMID: 31692161 Free PMC article.
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.
Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Rosenthal L, Ashizawa T, Pulst SM, Wang N, Kuo SH. Gan SR, et al. Among authors: geschwind md. Parkinsonism Relat Disord. 2020 Mar;72:37-43. doi: 10.1016/j.parkreldis.2020.02.004. Epub 2020 Feb 17. Parkinsonism Relat Disord. 2020. PMID: 32105964 Free PMC article.
Mild cognitive impairment in prediagnosed Huntington disease.
Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. Duff K, et al. Neurology. 2010 Aug 10;75(6):500-7. doi: 10.1212/WNL.0b013e3181eccfa2. Epub 2010 Jul 7. Neurology. 2010. PMID: 20610833 Free PMC article.
186 results