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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.
Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
Godbole NP, Sadjadi R, DeBono MA, Grant NR, Kelly DC, James PF, Stephen CD, Balkwill MD, Lewis RF, Eichler FS. Godbole NP, et al. Among authors: stephen cd. Front Neurol. 2021 Jun 17;12:684102. doi: 10.3389/fneur.2021.684102. eCollection 2021. Front Neurol. 2021. PMID: 34220690 Free PMC article.
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM. Rowe OE, et al. Among authors: stephen cd. Mol Genet Metab. 2021 Aug;133(4):386-396. doi: 10.1016/j.ymgme.2021.06.008. Epub 2021 Jun 24. Mol Genet Metab. 2021. PMID: 34226107 Free PMC article.
55 results