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Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.
Bishop DP, Westerhausen MT, Barthelemy F, Lockwood T, Cole N, Gibbs EM, Crosbie RH, Nelson SF, Miceli MC, Doble PA, Wanagat J. Bishop DP, et al. Among authors: barthelemy f. Sci Rep. 2021 Jan 13;11(1):1128. doi: 10.1038/s41598-020-80495-8. Sci Rep. 2021. PMID: 33441839 Free PMC article.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: barthelemy f. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. Wang RT, et al. Among authors: barthelemy f. Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907980 Free PMC article.
46 results