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Page 1
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH. Grunseich C, et al. Among authors: lehky tj. J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. J Neurol. 2015. PMID: 25736553 Free PMC article. No abstract available.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: lehky tj. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. Retracted and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622 PMID: 26944273 Free PMC article. Retracted and republished.
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D. Burke EA, et al. Among authors: lehky tj. Am J Med Genet A. 2020 May;182(5):1278-1283. doi: 10.1002/ajmg.a.61542. Epub 2020 Mar 9. Am J Med Genet A. 2020. PMID: 32150337 Free PMC article.
Neurological manifestations of Erdheim-Chester Disease.
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Boyd LC, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):497-506. doi: 10.1002/acn3.51014. Epub 2020 Mar 29. Ann Clin Transl Neurol. 2020. PMID: 32227455 Free PMC article.
60 results