| Year |
Citation |
Score |
| 2023 |
Bartoli M, Bailey RM, Meyer K, Barthélémy F. Editorial: Personalized medicine for neuromuscular disorders. Frontiers in Cell and Developmental Biology. 11: 1329048. PMID 38033860 DOI: 10.3389/fcell.2023.1329048 |
0.388 |
|
| 2022 |
Barthélémy F, Santoso JW, Rabichow L, Jin R, Little I, Nelson SF, McCain ML, Miceli MC. Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels. Frontiers in Cell and Developmental Biology. 10: 830415. PMID 35465312 DOI: 10.3389/fcell.2022.830415 |
0.304 |
|
| 2019 |
Barthélémy F, Wang RT, Hsu C, Douine ED, Marcantonio EE, Nelson SF, Miceli MC. Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. Molecular Therapy. Nucleic Acids. 18: 580-589. PMID 31678734 DOI: 10.1016/J.Omtn.2019.09.020 |
0.405 |
|
| 2019 |
Gibbs EM, Barthélémy F, Douine ED, Hardiman NC, Shieh PB, Khanlou N, Crosbie RH, Nelson SF, Miceli MC. Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature. Neuromuscular Disorders : Nmd. PMID 31672265 DOI: 10.1016/J.Nmd.2019.09.009 |
0.473 |
|
| 2018 |
Barthélémy F, Wein N. Personalized gene and cell therapy for Duchenne Muscular Dystrophy. Neuromuscular Disorders : Nmd. PMID 30224293 DOI: 10.1016/J.Nmd.2018.06.009 |
0.455 |
|
| 2018 |
Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Dysferlin Exon 32 Skipping in Patient Cells. Methods in Molecular Biology (Clifton, N.J.). 1828: 489-496. PMID 30171562 DOI: 10.1007/978-1-4939-8651-4_31 |
0.696 |
|
| 2018 |
Barthelemy F, Wang D, Nelson SF, Miceli MC. Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse. Methods in Molecular Biology (Clifton, N.J.). 1828: 309-326. PMID 30171550 DOI: 10.1007/978-1-4939-8651-4_19 |
0.478 |
|
| 2018 |
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. DMD genotype correlations from duchenneConnect: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation sub-type. Human Mutation. PMID 29907980 DOI: 10.1002/Humu.23561 |
0.394 |
|
| 2018 |
Barthélémy F, Defour A, Lévy N, Krahn M, Bartoli M. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. Journal of Neuromuscular Diseases. 5: 21-28. PMID 29480214 DOI: 10.3233/Jnd-170251 |
0.695 |
|
| 2015 |
Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M. Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290. PMID 27858744 DOI: 10.3233/Jnd-150109 |
0.495 |
|
| 2015 |
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, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. American Journal of Human Genetics. 96: 498-506. PMID 25728775 DOI: 10.1016/J.Ajhg.2015.01.017 |
0.344 |
|
| 2015 |
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, et al. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. European Journal of Human Genetics : Ejhg. 23: 1051-61. PMID 25649378 DOI: 10.1038/Ejhg.2014.239 |
0.57 |
|
| 2014 |
Simon J, Barthelemy F, Puppo F, Courrier S, Bartoli M, Krahn M. Cavéoline 3 et lamines A/C : une même voie physiologique ? Revue Neurologique. 170: A42. DOI: 10.1016/J.Neurol.2014.01.163 |
0.654 |
|
| 2012 |
Barthélémy F, Kergourlay V, Lévy N, Krahn M, Bartoli M. T.P.27 Characterization of the modular domains of dysferlin for gene transfer Neuromuscular Disorders. 22: 860-861. DOI: 10.1016/J.Nmd.2012.06.192 |
0.681 |
|
| 2011 |
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Translational research and therapeutic perspectives in dysferlinopathies. Molecular Medicine (Cambridge, Mass.). 17: 875-82. PMID 21556485 DOI: 10.2119/Molmed.2011.00084 |
0.718 |
|
| 2010 |
Lévy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M. Therapeutic exon 'switching' for dysferlinopathies? European Journal of Human Genetics : Ejhg. 18: 969-70; author reply. PMID 20512160 DOI: 10.1038/Ejhg.2010.73 |
0.598 |
|
| 2010 |
Wein N, Avril A, Krahn M, Navarro C, Barthelemy F, Courrier S, Leturcq F, Garcia L, Bartoli M, Lévy N. O.17 Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping Neuromuscular Disorders. 20: 640. DOI: 10.1016/J.Nmd.2010.07.141 |
0.654 |
|
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