PubMed

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.

Hum Mol Genet. 2009 Oct 15;18(20):3779-94. Epub 2009 Jul 14.PMID: 19602481 [PubMed - in process]Related articles

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.

Hum Mutat. 2009 Jun;30(6):934-45.PMID: 19367636 [PubMed - indexed for MEDLINE]Related articles

Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009.

Kaplan JC.

Neuromuscul Disord. 2009 Jan;19(1):77-98. No abstract available. PMID: 19320066 [PubMed - indexed for MEDLINE]Related articles

[Lost after translation]

Kaplan JC.

Med Sci (Paris). 2008 Nov;24(11):912-5. French. No abstract available. PMID: 19038089 [PubMed - indexed for MEDLINE]Related articles

[In mito veritas?]

Kaplan JC.

Med Sci (Paris). 2008 May;24(5):470-2. French. No abstract available. PMID: 18466722 [PubMed - indexed for MEDLINE]Related articles

[Ex vivo veritas]

Kaplan JC.

Med Sci (Paris). 2008 Apr;24(4):427. French. No abstract available. PMID: 18405643 [PubMed - indexed for MEDLINE]Related articles

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.

Eur J Hum Genet. 2008 Jul;16(7):793-803. Epub 2008 Feb 20.PMID: 18285821 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Kaplan JC, Chelly J, Garcia L.

Med Sci (Paris). 2008 Feb;24(2):215-7. French. No abstract available. PMID: 18272087 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mutat. 2007 Feb;28(2):183-95.PMID: 17041906 [PubMed - indexed for MEDLINE]Related articles

[Neither genes, nor junk, but... TAR/TUF!]

Kaplan JC.

Med Sci (Paris). 2005 Nov;21(11):1005. French. No abstract available. PMID: 16274656 [PubMed - indexed for MEDLINE]Related articles

[Molecular bases of dystrophinopathies]

Leturcq F, Kaplan JC.

J Soc Biol. 2005;199(1):5-11. Review. French. PMID: 16114258 [PubMed - indexed for MEDLINE]Related articles

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.

Brain. 2005 Apr;128(Pt 4):732-42. Epub 2005 Feb 2.PMID: 15689361 [PubMed - indexed for MEDLINE]Related articlesFree article

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only).

Hamroun D, Béroud C, Fontaine B, Kaplan JC.

Neuromuscul Disord. 2005 Jan;15(1):88. No abstract available. PMID: 15639127 [PubMed - indexed for MEDLINE]Related articles

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

Romero NB, Braun S, Benveniste O, Leturcq F, Hogrel JY, Morris GE, Barois A, Eymard B, Payan C, Ortega V, Boch AL, Lejean L, Thioudellet C, Mourot B, Escot C, Choquel A, Recan D, Kaplan JC, Dickson G, Klatzmann D, Molinier-Frenckel V, Guillet JG, Squiban P, Herson S, Fardeau M.

Hum Gene Ther. 2004 Nov;15(11):1065-76.PMID: 15610607 [PubMed - indexed for MEDLINE]Related articles

[An opening in Duchenne muscular dystrophy: persistent therapeutic rescue of dystrophin by vectorized antisense mediated exon skipping in mdx mice]

Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O.

Med Sci (Paris). 2004 Dec;20(12):1163-5. French. No abstract available. PMID: 15581476 [PubMed - indexed for MEDLINE]Related articlesFree article

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.

Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O.

Science. 2004 Dec 3;306(5702):1796-9. Epub 2004 Nov 4.PMID: 15528407 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J.

Am J Med Genet A. 2004 Mar 1;125A(2):152-6. Review.PMID: 14981715 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders:gene location.

Kaplan JC.

Neuromuscul Disord. 2003 Dec;13(10):837-47. No abstract available. PMID: 14719535 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2004 Jan;14(1):85-106. No abstract available. PMID: 14702948 [PubMed - indexed for MEDLINE]Related articles

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.

Neuromuscul Disord. 2004 Jan;14(1):10-8.PMID: 14659407 [PubMed - indexed for MEDLINE]Related articles

Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine.

Urtizberea JA, Fan QS, Vroom E, Récan D, Kaplan JC.

Neuromuscul Disord. 2003 Nov;13(9):705-7.PMID: 14561492 [PubMed - indexed for MEDLINE]Related articles

CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.

Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan JC, Aristizábal G.

Hum Mutat. 2003 Sep;22(3):259.PMID: 12938099 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2002 Jun;12(5):513-23. No abstract available. PMID: 12102034 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2002 Mar;12(3):324-33. No abstract available. PMID: 11885543 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2002 Jan;12(1):82-100. No abstract available. PMID: 11791514 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2002 Feb;12(2):214-23. No abstract available. PMID: 11789477 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2001 Nov;11(8):764-73. No abstract available. PMID: 11712509 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC.

Neuromuscul Disord. 2001 Sep;11(6-7):680-9. No abstract available. PMID: 11569468 [PubMed - indexed for MEDLINE]Related articles

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.

Romero NB, De Lonlay P, Llense S, Leturcq F, Touati G, Urtizberea JA, Saudubray JM, Munnich A, Kaplan JC, Récan D.

Neuromuscul Disord. 2001 Jul;11(5):494-8.PMID: 11404124 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2001 Mar;11(2):221-9. No abstract available. PMID: 11360876 [PubMed - indexed for MEDLINE]Related articles

[Presentation. The birth of molecular medicine]

Kaplan JC.

Bull Acad Natl Med. 2000;184(7):1359-61. French. No abstract available. PMID: 11261242 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC.

Neuromuscul Disord. 2000 Oct;10(7):I-IX. No abstract available. PMID: 11183556 [PubMed - indexed for MEDLINE]Related articles

Genomics and medicine: an anticipation. From Boolean Mendelian genetics to multifactorial molecular medicine.

Kaplan JC, Junien C.

C R Acad Sci III. 2000 Dec;323(12):1167-74.PMID: 11147103 [PubMed - indexed for MEDLINE]Related articles

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

Canki-Klain N, Récan D, Milicić D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N.

Croat Med J. 2000 Dec;41(4):389-95.PMID: 11063761 [PubMed - indexed for MEDLINE]Related articlesFree article

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

Merlini L, Kaplan JC, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat JM, Voit T, Warter JM.

Neurology. 2000 Mar 14;54(5):1075-9.PMID: 10720277 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.Vol. 10 No. 2, February 2000.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2000 Feb;10(2):I-VIII. No abstract available. PMID: 10714593 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 2000 Jan;10(1):I-XV. No abstract available. PMID: 10677870 [PubMed - indexed for MEDLINE]Related articles

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

Bienvenu T, Bousquet S, Vidaud D, Hubert D, Francoual C, Beldjord C, Kaplan JC.

Hum Mutat. 1998;12(3):213-4.PMID: 10651488 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 1999 Dec;9(8):I-VIII. No abstract available. PMID: 10619722 [PubMed - indexed for MEDLINE]Related articles

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 1999 Oct;9(6-7):I-VIII. No abstract available. PMID: 10545053 [PubMed - indexed for MEDLINE]Related articles

Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis.

Puéchal X, Fajac I, Bienvenu T, Desmazes-Dufeu N, Hubert D, Kaplan JC, Menkès CJ, Dusser DJ.

Eur Respir J. 1999 Jun;13(6):1281-7.PMID: 10445602 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.

Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T.

Hum Hered. 1999 Mar;49(2):81-4.PMID: 10077727 [PubMed - indexed for MEDLINE]Related articlesFree article

Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.

Dinçer P, Piccolo F, Leturcq F, Kaplan JC, Jeanpierre M, Topaloğlu H.

Prenat Diagn. 1998 Dec;18(12):1300-3.PMID: 9885023 [PubMed - indexed for MEDLINE]Related articles

Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.

Steffann J, Vidaud D, Bousquet S, Jullien M, Ninot A, Kaplan JC, Beldjord C, Bienvenu T.

Ann Genet. 1998;41(4):213-5. No abstract available. PMID: 9881185 [PubMed - indexed for MEDLINE]Related articles

Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis.

Fajac I, Hubert D, Bienvenu T, Richaud-Thiriez B, Matran R, Kaplan JC, Dall'Ava-Santucci J, Dusser DJ.

Eur Respir J. 1998 Dec;12(6):1295-300.PMID: 9877480 [PubMed - indexed for MEDLINE]Related articlesFree article

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A.

Brain. 1998 Sep;121 ( Pt 9):1735-47.PMID: 9762961 [PubMed - indexed for MEDLINE]Related articlesFree article

Neuromuscular disorders: gene location.

Kaplan JC, Fontaine B.

Neuromuscul Disord. 1998 Apr;8(2):I-VII. No abstract available. PMID: 9608568 [PubMed - indexed for MEDLINE]Related articles

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.

Bienvenu T, Lepercq J, Allard JP, Hubert D, Francoual C, Beldjord C, Kaplan JC.

Ann Genet. 1998;41(1):63-4. No abstract available. PMID: 9599654 [PubMed - indexed for MEDLINE]Related articles

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.

Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP.

Neuromuscul Disord. 1998 Feb;8(1):30-8.PMID: 9565988 [PubMed - indexed for MEDLINE]Related articles

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.

Romero NB, Récan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC.

Neuromuscul Disord. 1997 Dec;7(8):499-504.PMID: 9447607 [PubMed - indexed for MEDLINE]Related articles