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Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy.
Mayhew AG, Moat D, McDermott MP, Eagle M, Griggs RC, King WM, James MK, Muni-Lofra R, Shillington A, Gregson S, Pallant L, Skura C, Staudt LA, Eichinger K, McMurchie H, Rabb R, Di Marco M, Brown S, Zanin R, Arnoldi MT, McIntyre M, Wilson A, Alfano LN, Lowes LP, Blomgren C, Milev E, Iodice M, Pasternak A, Chiu A, Lehnert I, Claus N, Dieruf KA, Rolle E, Nicorici A, Andres B, Hobbiebrunken E, Roetmann G, Kern V, Civitello M, Vogt S, Hayes MJ, Scholtes C, Lacroix C, Gunn T, Warner S, Newman J, Barp A, Kundrat K, Kovelman S, Powers PJ, Guglieri M; Muscle Study Group and TREAT-NMD. Mayhew AG, et al. Among authors: shillington a. Neuromuscul Disord. 2022 Jun;32(6):460-467. doi: 10.1016/j.nmd.2022.02.012. Epub 2022 Feb 26. Neuromuscul Disord. 2022. PMID: 35618576 Free article.
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Mah JK, et al. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178. JAMA Netw Open. 2022. PMID: 35076703 Free PMC article. Clinical Trial.
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.
Yang E, Kruger E, Yin D, Mace K, Tierney M, Liao N, Cibelli E, Drozd D, Ross N, Deering KL, Herout P, Harshaw Q, Shillington A, Thomas N, Marsden D, Kritzer A, Vockley J. Yang E, et al. Among authors: shillington a. Mol Genet Metab. 2024 May;142(1):108350. doi: 10.1016/j.ymgme.2024.108350. Epub 2024 Feb 23. Mol Genet Metab. 2024. PMID: 38458123 Free article.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: shillington a. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.
Chai Y, Lee SSY, Shillington A, Du X, Fok CKM, Yeung KC, Siu GKY, Yuan S, Zheng Z, Tsang HWS, Gu S, Chen Y, Ye T, Ip JPK. Chai Y, et al. Among authors: shillington a. IBRO Neurosci Rep. 2023 Sep 22;15:218-224. doi: 10.1016/j.ibneur.2023.09.007. eCollection 2023 Dec. IBRO Neurosci Rep. 2023. PMID: 37822516 Free PMC article.
110 results