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Targeting Huntingtin Expression in Patients with Huntington's Disease.
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM; Phase 1–2a IONIS-HTTRx Study Site Teams. Tabrizi SJ, et al. Among authors: schobel sa. N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6. N Engl J Med. 2019. PMID: 31059641 Clinical Trial.
Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington's disease.
Rodrigues FB, Byrne LM, Tortelli R, Johnson EB, Wijeratne PA, Arridge M, De Vita E, Ghazaleh N, Houghton R, Furby H, Alexander DC, Tabrizi SJ, Schobel S, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ. Rodrigues FB, et al. Sci Transl Med. 2020 Dec 16;12(574):eabc2888. doi: 10.1126/scitranslmed.abc2888. Sci Transl Med. 2020. PMID: 33328328 Free PMC article.
A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier F, Simillion C, Bamdadian A, Tortelli R, Byrne LM, Zhang YP, Wolf D, Smith AV, Czech C, Gossens C, Weydt P, Schobel SA, Rodrigues FB, Wild EJ, Lindemann M. Lipsmeier F, et al. Among authors: schobel sa. J Med Internet Res. 2022 Jun 28;24(6):e32997. doi: 10.2196/32997. J Med Internet Res. 2022. PMID: 35763342 Free PMC article.
A biological classification of Huntington's disease: the Integrated Staging System.
Tabrizi SJ, Schobel S, Gantman EC, Mansbach A, Borowsky B, Konstantinova P, Mestre TA, Panagoulias J, Ross CA, Zauderer M, Mullin AP, Romero K, Sivakumaran S, Turner EC, Long JD, Sampaio C; Huntington's Disease Regulatory Science Consortium (HD-RSC). Tabrizi SJ, et al. Lancet Neurol. 2022 Jul;21(7):632-644. doi: 10.1016/S1474-4422(22)00120-X. Lancet Neurol. 2022. PMID: 35716693 Review.
Volumetric MRI-Based Biomarkers in Huntington's Disease: An Evidentiary Review.
Kinnunen KM, Schwarz AJ, Turner EC, Pustina D, Gantman EC, Gordon MF, Joules R, Mullin AP, Scahill RI, Georgiou-Karistianis N; Huntington's Disease Regulatory Science Consortium (HD-RSC). Kinnunen KM, et al. Front Neurol. 2021 Sep 21;12:712555. doi: 10.3389/fneur.2021.712555. eCollection 2021. Front Neurol. 2021. PMID: 34621236 Free PMC article. Review.
Motor, cognitive, and functional declines contribute to a single progressive factor in early HD.
Schobel SA, Palermo G, Auinger P, Long JD, Ma S, Khwaja OS, Trundell D, Cudkowicz M, Hersch S, Sampaio C, Dorsey ER, Leavitt BR, Kieburtz KD, Sevigny JJ, Langbehn DR, Tabrizi SJ; TRACK-HD, COHORT, CARE-HD, and 2CARE Huntington Study Group Investigators. Schobel SA, et al. Neurology. 2017 Dec 12;89(24):2495-2502. doi: 10.1212/WNL.0000000000004743. Epub 2017 Nov 15. Neurology. 2017. PMID: 29142089 Free PMC article.
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