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Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD, de Gusmao CM, Srinivasan SR, Olsen A, Freua F, Kok F, Montes Garcia Barbosa R, Chen JYH, Appleby BS, Prior T, Frosch MP, Schmahmann JD. Stephen CD, et al. Mov Disord Clin Pract. 2024 Apr;11(4):411-423. doi: 10.1002/mdc3.13976. Epub 2024 Jan 23. Mov Disord Clin Pract. 2024. PMID: 38258626
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D, Vignoli B, Ramesh N, Polanco MJ, Coutelier M, Stephen CD, Canossa M, Monin ML, Aeschlimann P, Turberville S, Aeschlimann D, Schmahmann JD, Hadjivassiliou M, Durr A, Pandey UB, Pennuto M, Basso M. Tripathy D, et al. Among authors: stephen cd. Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259. Hum Mol Genet. 2017. PMID: 28934387
The Comprehensive Management of Cerebellar Ataxia in Adults.
Stephen CD, Brizzi KT, Bouffard MA, Gomery P, Sullivan SL, Mello J, MacLean J, Schmahmann JD. Stephen CD, et al. Curr Treat Options Neurol. 2019 Feb 21;21(3):9. doi: 10.1007/s11940-019-0549-2. Curr Treat Options Neurol. 2019. PMID: 30788613 Review.
52 results