Kaplan JC - Search Results

1

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Among authors: kaplan jc. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636

2

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Nicolas A, Lucchetti-Miganeh C, Yaou RB, Kaplan JC, Chelly J, Leturcq F, Barloy-Hubler F, Le Rumeur E. Nicolas A, et al. Among authors: kaplan jc. Orphanet J Rare Dis. 2012 Jul 9;7:45. doi: 10.1186/1750-1172-7-45. Orphanet J Rare Dis. 2012. PMID: 22776072 Free PMC article.

3

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Deburgrave N, et al. Among authors: kaplan jc. Hum Mutat. 2007 Feb;28(2):183-95. doi: 10.1002/humu.20422. Hum Mutat. 2007. PMID: 17041906

4

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

Béroud C, Carrié A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carré-Pigeon F, Mayer M, Bellance R, Récan D, Chelly J, Kaplan JC, Leturcq F. Béroud C, et al. Among authors: kaplan jc. Neuromuscul Disord. 2004 Jan;14(1):10-8. doi: 10.1016/s0960-8966(03)00169-x. Neuromuscul Disord. 2004. PMID: 14659407

5

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: kaplan jc. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481

6

[Effective exon skipping in humans: a symbolic but promising jump into DMD therapy].

Kaplan JC, Chelly J, Garcia L. Kaplan JC, et al. Med Sci (Paris). 2008 Feb;24(2):215-7. doi: 10.1051/medsci/2008242215. Med Sci (Paris). 2008. PMID: 18272087 Free article. French. No abstract available.

7

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Kaplan JC, Hamroun D. Kaplan JC, et al. Neuromuscul Disord. 2015 Dec;25(12):991-1020. doi: 10.1016/j.nmd.2015.10.010. Epub 2015 Dec 2. Neuromuscul Disord. 2015. PMID: 27563712 No abstract available.

8

Illegitimate transcription: its use in the study of inherited disease.

Kaplan JC, Kahn A, Chelly J. Kaplan JC, et al. Hum Mutat. 1992;1(5):357-60. doi: 10.1002/humu.1380010502. Hum Mutat. 1992. PMID: 1301944 Review.

9

[Molecular bases of dystrophinopathies].

Leturcq F, Kaplan JC. Leturcq F, et al. Among authors: kaplan jc. J Soc Biol. 2005;199(1):5-11. doi: 10.1051/jbio:2005001. J Soc Biol. 2005. PMID: 16114258 Review. French.

10

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Gentil C, Leturcq F, Ben Yaou R, Kaplan JC, Laforet P, Pénisson-Besnier I, Espil-Taris C, Voit T, Garcia L, Piétri-Rouxel F. Gentil C, et al. Among authors: kaplan jc. Hum Mol Genet. 2012 Aug 1;21(15):3449-60. doi: 10.1093/hmg/dds176. Epub 2012 May 15. Hum Mol Genet. 2012. PMID: 22589245

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