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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: gomez cm. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.
Vascular risk factors and clinical progression in spinocerebellar ataxias.
Lo RY, Figueroa KP, Pulst SM, Lin CY, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH. Lo RY, et al. Among authors: gomez cm. Tremor Other Hyperkinet Mov (N Y). 2015 Feb 2;5:287. doi: 10.7916/D89885S0. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 25713748 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: gomez cm. 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: gomez cm. 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.
C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.
Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH. Figueroa KP, et al. Among authors: gomez cm. Mov Disord. 2018 Mar;33(3):497-498. doi: 10.1002/mds.27258. Epub 2017 Nov 29. Mov Disord. 2018. PMID: 29193335 Free PMC article. No abstract available.
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: gomez cm. 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.
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: gomez cm. 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.
307 results