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1987 1
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1999 2
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2002 5
2003 4
2004 10
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2011 20
2012 24
2013 12
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371 results

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Page 1
Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities.
Tabrizi SJ, Estevez-Fraga C, van Roon-Mom WMC, Flower MD, Scahill RI, Wild EJ, Muñoz-Sanjuan I, Sampaio C, Rosser AE, Leavitt BR. Tabrizi SJ, et al. Lancet Neurol. 2022 Jul;21(7):645-658. doi: 10.1016/S1474-4422(22)00121-1. Lancet Neurol. 2022. PMID: 35716694 Free PMC article. Review.
The molecular pathogenesis of Huntington's disease is complex, with toxicity that arises from full-length expanded huntingtin and N-terminal fragments of huntingtin, which are both prone to misfolding due to proteolysis; aberrant intron-1 splicing of the HTT gene; and soma …
The molecular pathogenesis of Huntington's disease is complex, with toxicity that arises from full-length expanded huntingtin and N-t …
Clinical Features of Huntington's Disease.
Ghosh R, Tabrizi SJ. Ghosh R, et al. Adv Exp Med Biol. 2018;1049:1-28. doi: 10.1007/978-3-319-71779-1_1. Adv Exp Med Biol. 2018. PMID: 29427096 Review.
The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolonged polyglutamine stretch at the N-terminus of the protein. Since the discovery of the gene over 20 years ago much progress has been m …
The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolong …
Clinical Review of Juvenile Huntington's Disease.
Oosterloo M, Touze A, Byrne LM, Achenbach J, Aksoy H, Coleman A, Lammert D, Nance M, Nopoulos P, Reilmann R, Saft C, Santini H, Squitieri F, Tabrizi S, Burgunder JM, Quarrell O; Pediatric Huntington Disease Working Group of the European Huntington Disease Network. Oosterloo M, et al. J Huntingtons Dis. 2024;13(2):149-161. doi: 10.3233/JHD-231523. J Huntingtons Dis. 2024. PMID: 38669553 Free PMC article. Review.
Neuraxial Anesthesia in Patients With Aortic Stenosis: A Systematic Review.
Tabrizi NS, Demos RA, Schumann R, Musuku SR, Shapeton AD. Tabrizi NS, et al. J Cardiothorac Vasc Anesth. 2024 Feb;38(2):505-516. doi: 10.1053/j.jvca.2023.09.027. Epub 2023 Sep 24. J Cardiothorac Vasc Anesth. 2024. PMID: 37880038
Of 1,433 citations, 61 met full-text inclusion criteria, including 3,228 patients undergoing noncardiac (n = 3,146, 97.5%), obstetric (n = 69, 2.1%), and cardiac (n = 13, 0.4%) procedures. ...Hypotension requiring vasopressors was the most common intraoperati …
Of 1,433 citations, 61 met full-text inclusion criteria, including 3,228 patients undergoing noncardiac (n = 3,146, 97.5%), obstetric …
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
Safety of pulsed field ablation in more than 17,000 patients with atrial fibrillation in the MANIFEST-17K study.
Ekanem E, Neuzil P, Reichlin T, Kautzner J, van der Voort P, Jais P, Chierchia GB, Bulava A, Blaauw Y, Skala T, Fiala M, Duytschaever M, Szeplaki G, Schmidt B, Massoullie G, Neven K, Thomas O, Vijgen J, Gandjbakhch E, Scherr D, Johannessen A, Keane D, Boveda S, Maury P, García-Bolao I, Anic A, Hansen PS, Raczka F, Lepillier A, Guyomar Y, Gupta D, Van Opstal J, Defaye P, Sticherling C, Sommer P, Kucera P, Osca J, Tabrizi F, Roux A, Gramlich M, Bianchi S, Adragão P, Solimene F, Tondo C, Russo AD, Schreieck J, Luik A, Rana O, Frommeyer G, Anselme F, Kreis I, Rosso R, Metzner A, Geller L, Baldinger SH, Ferrero A, Willems S, Goette A, Mellor G, Mathew S, Szumowski L, Tilz R, Iacopino S, Jacobsen PK, George A, Osmancik P, Spitzer S, Balasubramaniam R, Parwani AS, Deneke T, Glowniak A, Rossillo A, Pürerfellner H, Duncker D, Reil P, Arentz T, Steven D, Olalla JJ, de Jong JSSG, Wakili R, Abbey S, Timo G, Asso A, Wong T, Pierre B, Ewertsen NC, Bergau L, Lozano-Granero C, Rivero M, Breitenstein A, Inkovaara J, Fareh S, Latcu DG, Linz D, Müller P, Ramos-Maqueda J, Beiert T, Themistoclakis S, Meininghaus DG, Stix G, Tzeis S, Baran J, Almroth H, Munoz DR, de Sousa J, Efremidis M, Balsam P, Petr… See abstract for full author list ➔ Ekanem E, et al. Nat Med. 2024 Jul;30(7):2020-2029. doi: 10.1038/s41591-024-03114-3. Epub 2024 Jul 8. Nat Med. 2024. PMID: 38977913 Free PMC article.
BRAF-MEK Inhibition in Newly Diagnosed Papillary Craniopharyngiomas.
Brastianos PK, Twohy E, Geyer S, Gerstner ER, Kaufmann TJ, Tabrizi S, Kabat B, Thierauf J, Ruff MW, Bota DA, Reardon DA, Cohen AL, De La Fuente MI, Lesser GJ, Campian J, Agarwalla PK, Kumthekar P, Mann B, Vora S, Knopp M, Iafrate AJ, Curry WT Jr, Cahill DP, Shih HA, Brown PD, Santagata S, Barker FG 2nd, Galanis E. Brastianos PK, et al. N Engl J Med. 2023 Jul 13;389(2):118-126. doi: 10.1056/NEJMoa2213329. N Engl J Med. 2023. PMID: 37437144 Free PMC article. Clinical Trial.
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. 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.
371 results