Bartoli M - Search Results

1

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Among authors: bartoli m. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.

2

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N. Wein N, et al. Among authors: bartoli m. Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23. Neuromuscul Disord. 2010. PMID: 19854055

3

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

4

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

5

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.

6

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

7

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A. Krahn M, et al. Among authors: bartoli m. Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. Clin Genet. 2011. PMID: 21204801 No abstract available.

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

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

Bartoli M, Nègre P, Wein N, Bourgeois P, Pécheux C, Lévy N, Krahn M. Bartoli M, et al. Clin Genet. 2012 Jan;81(1):99-101. doi: 10.1111/j.1399-0004.2011.01708.x. Clin Genet. 2012. PMID: 22150418 No abstract available.

10

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

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