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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. Among authors: quarrell o. J Huntingtons Dis. 2024 Apr 26. doi: 10.3233/JHD-231523. Online ahead of print. J Huntingtons Dis. 2024. PMID: 38669553 Free article. Review.
Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study.
Reilmann R, Anderson KE, Feigin A, Tabrizi SJ, Leavitt BR, Stout JC, Piccini P, Schubert R, Loupe P, Wickenberg A, Borowsky B, Rynkowski G, Volkinshtein R, Li T, Savola JM, Hayden M, Gordon MF; LEGATO-HD Study Group. Reilmann R, et al. Lancet Neurol. 2024 Mar;23(3):243-255. doi: 10.1016/S1474-4422(23)00454-4. Epub 2024 Jan 24. Lancet Neurol. 2024. PMID: 38280392 Clinical Trial.
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.
Suicidal ideation in a European Huntington's disease population.
Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network. Hubers AA, et al. J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20. J Affect Disord. 2013. PMID: 23876196 Free article.
Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. MacLeod R, et al. Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Clin Genet. 2013. PMID: 22642570 No abstract available.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful.
Ketels MMA, Quarrell OW, Oosterloo M. Ketels MMA, et al. Among authors: quarrell ow. Mov Disord Clin Pract. 2023 Aug 18;10(10):1552-1553. doi: 10.1002/mdc3.13850. eCollection 2023 Oct. Mov Disord Clin Pract. 2023. PMID: 37868924 Free PMC article. No abstract available.
185 results