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Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.
Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group. Grunseich C, et al. Among authors: fischbeck kh. Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15. Lancet Neurol. 2018. PMID: 30337273 Free PMC article. Clinical Trial.
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Maybe too much of a good thing in gene therapy.
Finkel RS, Fischbeck KH. Finkel RS, et al. Among authors: fischbeck kh. Nat Neurosci. 2021 Jul;24(7):901-902. doi: 10.1038/s41593-021-00882-w. Nat Neurosci. 2021. PMID: 34131327 No abstract available.
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
Darnell AJ, Austin H, Bluemke DA, Cannon RO 3rd, Fischbeck K, Gahl W, Goldman D, Grady C, Greene MH, Holland SM, Hull SC, Porter FD, Resnik D, Rubinstein WS, Biesecker LG. Darnell AJ, et al. Am J Hum Genet. 2016 Mar 3;98(3):435-441. doi: 10.1016/j.ajhg.2016.01.010. Am J Hum Genet. 2016. PMID: 26942283 Free PMC article.
249 results