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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. Among authors: schmahmann jd. 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: schmahmann jd. Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259. Hum Mol Genet. 2017. PMID: 28934387
as-PSOCT: Volumetric microscopic imaging of human brain architecture and connectivity.
Wang H, Magnain C, Wang R, Dubb J, Varjabedian A, Tirrell LS, Stevens A, Augustinack JC, Konukoglu E, Aganj I, Frosch MP, Schmahmann JD, Fischl B, Boas DA. Wang H, et al. Among authors: schmahmann jd. Neuroimage. 2018 Jan 15;165:56-68. doi: 10.1016/j.neuroimage.2017.10.012. Epub 2017 Oct 7. Neuroimage. 2018. PMID: 29017866 Free PMC article.
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. Among authors: schmahmann jd. 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.
212 results