Florian Barthélémy

Florian Barthélémy

University of California Los Angeles - Los Angeles / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4585712
University of California
person_outline Florian Barthélémy's MOST POPULAR ARTICLES
1-) De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayVA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ...The American Journal of Human Genetics 96 (3), 498-506, 20151012015
2-) DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation …RT Wang, F Barthelemy, AS Martin, ED Douine, A Eskin, A Lucas, ...Human mutation 39 (9), 1193-1202, 2018542018
3-) Personalized gene and cell therapy for Duchenne muscular dystrophyF Barthélémy, N WeinNeuromuscular Disorders 28 (10), 803-824, 2018452018
4-) Translational research and therapeutic perspectives in dysferlinopathiesF Barthélémy, N Wein, M Krahn, N Lévy, M BartoliMolecular Medicine 17, 875-882, 2011522011
5-) Muscle cells fix breaches by orchestrating a membrane repair balletF Barthélémy, A Defour, N Lévy, M Krahn, M BartoliJournal of neuromuscular diseases 5 (1), 21-28, 2018402018