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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1995 1
1997 3
1999 1
2000 4
2001 5
2002 3
2003 3
2004 5
2005 12
2006 16
2007 12
2008 5
2009 7
2010 5
2011 10
2012 17
2013 15
2014 13
2015 11
2016 8
2017 9
2018 12
2019 20
2020 11
2021 15
2022 15
2023 12
2024 7

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223 results

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Page 1
Clinical Trials in Prader-Willi Syndrome: A Review.
Mahmoud R, Kimonis V, Butler MG. Mahmoud R, et al. Among authors: kimonis v. Int J Mol Sci. 2023 Jan 21;24(3):2150. doi: 10.3390/ijms24032150. Int J Mol Sci. 2023. PMID: 36768472 Free PMC article. Review.
Genetics of Obesity in Humans: A Clinical Review.
Mahmoud R, Kimonis V, Butler MG. Mahmoud R, et al. Among authors: kimonis v. Int J Mol Sci. 2022 Sep 20;23(19):11005. doi: 10.3390/ijms231911005. Int J Mol Sci. 2022. PMID: 36232301 Free PMC article. Review.
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.
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.
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. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. J Med Genet. 2024. PMID: 37940383 Free PMC article. Clinical Trial.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Among authors: kimonis ve. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Among authors: kimonis ve. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Review.
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. Tedesco B, et al. Among authors: kimonis v. Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28. Autophagy. 2023. PMID: 36854646 Free PMC article.
223 results