| De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay VA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ... The American Journal of Human Genetics 96 (3), 498-506, 2015 | 135 | 2015 |
| 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, 2018 | 78 | 2018 |
| Personalized gene and cell therapy for Duchenne muscular dystrophy F Barthélémy, N Wein Neuromuscular Disorders 28 (10), 803-824, 2018 | 57 | 2018 |
| Translational research and therapeutic perspectives in dysferlinopathies F Barthélémy, N Wein, M Krahn, N Lévy, M Bartoli Molecular Medicine 17, 875-882, 2011 | 49 | 2011 |
| Muscle cells fix breaches by orchestrating a membrane repair ballet F Barthélémy, A Defour, N Lévy, M Krahn, M Bartoli Journal of neuromuscular diseases 5 (1), 21-28, 2018 | 39 | 2018 |
| Truncated prelamin A expression in HGPS-like patients: a transcriptional study F Barthélémy, C Navarro, R Fayek, N Da Silva, P Roll, S Sigaudy, ... European Journal of Human Genetics 23 (8), 1051-1061, 2015 | 37 | 2015 |
| Exon 32 skipping of dysferlin rescues membrane repair in patients’ cells F Barthélémy, C Blouin, N Wein, V Mouly, S Courrier, E Dionnet, ... Journal of neuromuscular diseases 2 (3), 281-290, 2015 | 36 | 2015 |
| A well‐tolerated core needle muscle biopsy process suitable for children and adults F Barthelemy, JD Woods, S Nieves‐Rodriguez, ED Douine, R Wang, ... Muscle & nerve 62 (6), 688-698, 2020 | 23 | 2020 |
| Targeting RyR activity boosts antisense exon 44 and 45 skipping in human DMD skeletal or cardiac muscle culture models F Barthélémy, RTW Wang, C Hsu, ED Douine, EE Marcantonio, ... Molecular Therapy-Nucleic Acids, 2019 | 18 | 2019 |
| Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue DD Scripture-Adams, KN Chesmore, F Barthelemy, RT Wang, ... Communication Biology 5, 2022 | 15 | 2022 |
| Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin DP Bishop, MT Westerhausen, F Barthelemy, T Lockwood, N Cole, ... Scientific reports 11 (1), 1128, 2021 | 15 | 2021 |
| UCLA Clinical Genomics Center, De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay VA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ... Am. J. Hum. Genet 96, 498-506, 2015 | 14 | 2015 |
| UCLA Clinical Genomics Center, Grody WW, Vilain E., Nelson SF (2015) De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including … VA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ... Am. J. Hum. Genet 96, 498-506, 0 | 12 | |
| Enhanced methods for needle biopsy and cryopreservation of skeletal muscle in older adults CC Lee, A Hoang, D Segovia, A Herbst, F Barthelemy, E Gibbs, R Crosbie, ... Journal of cytology & histology 11 (2), 2020 | 10 | 2020 |
| Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature EM Gibbs, F Barthélémy, ED Douine, NC Hardiman, PB Shieh, N Khanlou, ... Neuromuscular Disorders 29 (11), 863-873, 2019 | 10 | 2019 |
| Therapeutic exon ‘switching’for dysferlinopathies? N Lévy, N Wein, F Barthelemy, V Mouly, L Garcia, M Krahn, M Bartoli European Journal of Human Genetics 18 (9), 969-970, 2010 | 8 | 2010 |
| Dysferlin exon 32 skipping in patient cells F Barthelemy, S Courrier, N Lévy, M Krahn, M Bartoli Exon Skipping and Inclusion Therapies: Methods and Protocols, 489-496, 2018 | 6 | 2018 |
| Validation and detection of exon skipping boosters in DMD patient cell models and mdx mouse F Barthelemy, D Wang, SF Nelson, MC Miceli Exon Skipping and Inclusion Therapies: Methods and Protocols, 309-326, 2018 | 5 | 2018 |
| Modeling patient-specific muscular dystrophy phenotypes and therapeutic responses in reprogrammed myotubes engineered on micromolded gelatin hydrogels F Barthélémy, JW Santoso, L Rabichow, R Jin, I Little, SF Nelson, ... Frontiers in Cell and Developmental Biology 10, 830415, 2022 | 4 | 2022 |
| Personalized medicine for neuromuscular disorders M Bartoli, RM Bailey, K Meyer, F Barthélémy Frontiers in Cell and Developmental Biology 11, 2023 | 2 | 2023 |
Stan NelsonProfessor of Human Genetics, UCLAVerified email at ucla.edu
