Bartoli M - Search Results

1

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.

Ballouhey O, Chapoton M, Alary B, Courrier S, Da Silva N, Krahn M, Lévy N, Weisleder N, Bartoli M. Ballouhey O, et al. Among authors: bartoli m. Biomedicines. 2023 May 13;11(5):1438. doi: 10.3390/biomedicines11051438. Biomedicines. 2023. PMID: 37239109 Free PMC article.

2

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N. Krahn M, et al. Among authors: bartoli m. Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951. Sci Transl Med. 2010. PMID: 20861509

3

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.

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. Barthélémy F, et al. Among authors: bartoli m. J Neuromuscul Dis. 2015 Sep 2;2(3):281-290. doi: 10.3233/JND-150109. J Neuromuscul Dis. 2015. PMID: 27858744 Free PMC article.

4

Dysferlin Exon 32 Skipping in Patient Cells.

Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Barthélémy F, et al. Among authors: bartoli m. Methods Mol Biol. 2018;1828:489-496. doi: 10.1007/978-1-4939-8651-4_31. Methods Mol Biol. 2018. PMID: 30171562

5

[CRISPR-Cas9 for muscle dystrophies].

Ballouhey O, Bartoli M, Levy N. Ballouhey O, et al. Among authors: bartoli m. Med Sci (Paris). 2020 Apr;36(4):358-366. doi: 10.1051/medsci/2020081. Epub 2020 May 1. Med Sci (Paris). 2020. PMID: 32356712 Free article. Review. French.

6

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.

Ballouhey O, Courrier S, Kergourlay V, Gorokhova S, Cerino M, Krahn M, Lévy N, Bartoli M. Ballouhey O, et al. Among authors: bartoli m. Front Cell Dev Biol. 2021 Nov 23;9:754555. doi: 10.3389/fcell.2021.754555. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34888307 Free PMC article.

7

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

8

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.

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

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.

Kergourlay V, Blandin G, Blanck V, Lévy N, Bartoli M, Krahn M. Kergourlay V, et al. Among authors: bartoli m. Ann Clin Transl Neurol. 2015 Jul;2(7):783-4. doi: 10.1002/acn3.216. Ann Clin Transl Neurol. 2015. PMID: 26273692 Free PMC article. No abstract available.

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