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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: kimonis v. J Med Genet. 2023 Nov 8:jmg-2023-109445. doi: 10.1136/jmg-2023-109445. Online ahead of print. J Med Genet. 2023. PMID: 37940383 Free article.
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.
Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Abuzzahab J, Barrett T, Lah M, Littlejohn E, Mathew V, Cowen NM, Bhatnagar A; DESTINY PWS Investigators. Miller JL, et al. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1676-1685. doi: 10.1210/clinem/dgad014. J Clin Endocrinol Metab. 2023. PMID: 36639249 Free PMC article. Clinical Trial.
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.
Weiss L, Carrer M, Shmara A, Cheng C, Yin H, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Martin A, Raben N, Weiss J, Grossman T, Jafar-Nejad P, Kimonis V. Weiss L, et al. Among authors: kimonis v. bioRxiv [Preprint]. 2024 Mar 2:2024.02.22.580414. doi: 10.1101/2024.02.22.580414. bioRxiv. 2024. PMID: 38464319 Free PMC article. Preprint.
The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteins.
Ecroyd H, Bartelt-Kirbach B, Ben-Zvi A, Bonavita R, Bushman Y, Casarotto E, Cecconi C, Lau WCY, Hibshman JD, Joosten J, Kimonis V, Klevit R, Liberek K, McMenimen KA, Miwa T, Mogk A, Montepietra D, Peters C, Rocchetti MT, Saman D, Sisto A, Secco V, Strauch A, Taguchi H, Tanguay M, Tedesco B, Toth ME, Wang Z, Benesch JLP, Carra S. Ecroyd H, et al. Among authors: kimonis v. Cell Stress Chaperones. 2023 Nov;28(6):621-629. doi: 10.1007/s12192-023-01360-x. Epub 2023 Jul 18. Cell Stress Chaperones. 2023. PMID: 37462824 Free PMC article. Review.
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis.
Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Hughes BS, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. Coulis G, et al. Among authors: kimonis v. Sci Adv. 2023 Jul 7;9(27):eadd9984. doi: 10.1126/sciadv.add9984. Epub 2023 Jul 7. Sci Adv. 2023. PMID: 37418531 Free PMC article.
221 results