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Cognitive phenotype in ataxia-telangiectasia.
Hoche F, Frankenberg E, Rambow J, Theis M, Harding JA, Qirshi M, Seidel K, Barbosa-Sicard E, Porto L, Schmahmann JD, Kieslich M. Hoche F, et al. Among authors: schmahmann jd. Pediatr Neurol. 2014 Sep;51(3):297-310. doi: 10.1016/j.pediatrneurol.2014.04.027. Epub 2014 May 5. Pediatr Neurol. 2014. PMID: 25037873
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
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.
213 results