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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhry V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, Kwan JY, Fischbeck KH, Mankodi A. Grunseich C, et al. Among authors: subramony sh. J Neurol Neurosurg Psychiatry. 2021 Nov;92(11):1186-1196. doi: 10.1136/jnnp-2020-325437. Epub 2021 Jun 8. J Neurol Neurosurg Psychiatry. 2021. PMID: 34103343 Free PMC article.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Deutsch GK, Hagerman KA, Sampson J, Dent G, Dekdebrun J, Parker DM, Thornton CA, Heatwole CR, Subramony SH, Mankodi AK, Ashizawa T, Statland JM, Arnold WD, Moxley RT 3rd, Day JW; Myotonic Dystrophy Clinical Research Network. Deutsch GK, et al. Among authors: subramony sh. Muscle Nerve. 2022 May;65(5):560-567. doi: 10.1002/mus.27520. Epub 2022 Feb 28. Muscle Nerve. 2022. PMID: 35179228 Free PMC article.
Inherited Ataxias in Children.
Subramony SH, Burns M, Kugelmann EL, Zingariello CD. Subramony SH, et al. Pediatr Neurol. 2022 Jun;131:54-62. doi: 10.1016/j.pediatrneurol.2022.04.004. Epub 2022 Apr 14. Pediatr Neurol. 2022. PMID: 35490578 Review.
Dominantly inherited ataxias.
Subramony SH, Vig PJ, McDaniel DO. Subramony SH, et al. Semin Neurol. 1999;19(4):419-25. doi: 10.1055/s-2008-1040856. Semin Neurol. 1999. PMID: 10716664 Review.
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL. Zesiewicz TA, et al. Among authors: subramony sh. Neurology. 2018 Mar 6;90(10):464-471. doi: 10.1212/WNL.0000000000005055. Epub 2018 Feb 9. Neurology. 2018. PMID: 29440566 Free PMC article.
183 results