Bartoli M - Search Results

1

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

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, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: bartoli m. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.

2

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.

Krahn M, Labelle V, Borges A, Bartoli M, Lévy N. Krahn M, et al. Among authors: bartoli m. Genet Test Mol Biomarkers. 2010 Feb;14(1):153-4. doi: 10.1089/gtmb.2009.0131. Genet Test Mol Biomarkers. 2010. PMID: 19929428

3

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.

Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforêt P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Lévy N. Wein N, et al. Among authors: bartoli m. Hum Mutat. 2010 Feb;31(2):136-42. doi: 10.1002/humu.21160. Hum Mutat. 2010. PMID: 19953532

4

Therapeutic exon 'switching' for dysferlinopathies?

Lévy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M. Lévy N, et al. Among authors: bartoli m. Eur J Hum Genet. 2010 Sep;18(9):969-70; author reply 971. doi: 10.1038/ejhg.2010.73. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512160 Free PMC article. No abstract available.

5

Translational research and therapeutic perspectives in dysferlinopathies.

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Barthélémy F, et al. Among authors: bartoli m. Mol Med. 2011 Sep-Oct;17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Mol Med. 2011. PMID: 21556485 Free PMC article. Review.

6

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. Blandin G, et al. Among authors: bartoli m. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

7

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Among authors: bartoli m. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.

8

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.

Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F. Gaillard MC, et al. Among authors: bartoli m. Neurology. 2014 Aug 19;83(8):733-42. doi: 10.1212/WNL.0000000000000708. Epub 2014 Jul 16. Neurology. 2014. PMID: 25031281

9

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Kergourlay V, et al. Among authors: bartoli m. Hum Mutat. 2014 Dec;35(12):1532-41. doi: 10.1002/humu.22710. Hum Mutat. 2014. PMID: 25312915

10

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.

Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, Bartoli M, Lévy N. Puppo F, et al. Among authors: bartoli m. Hum Mutat. 2015 Apr;36(4):443-53. doi: 10.1002/humu.22760. Epub 2015 Mar 19. Hum Mutat. 2015. PMID: 25615407

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