Llense S - Search Results

1

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.

Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, Taylor J, Morris GE, Dubowitz V. Muntoni F, et al. Among authors: llense s. Neuromuscul Disord. 1998 Apr;8(2):72-6. doi: 10.1016/s0960-8966(98)00006-6. Neuromuscul Disord. 1998. PMID: 9608559

2

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE. Manilal S, et al. Among authors: llense s. Hum Mol Genet. 1998 May;7(5):855-64. doi: 10.1093/hmg/7.5.855. Hum Mol Genet. 1998. PMID: 9536090

3

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. Romero NB, et al. Among authors: llense s. Neuromuscul Disord. 1997 Dec;7(8):499-504. doi: 10.1016/s0960-8966(97)00114-4. Neuromuscul Disord. 1997. PMID: 9447607

4

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. Romero NB, et al. Among authors: llense s. Neuromuscul Disord. 2001 Jul;11(5):494-8. doi: 10.1016/s0960-8966(01)00192-4. Neuromuscul Disord. 2001. PMID: 11404124

5

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. Canki-Klain N, et al. Among authors: llense s. Croat Med J. 2000 Dec;41(4):389-95. Croat Med J. 2000. PMID: 11063761 Free article.

6

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: llense s. Neuromuscul Disord. 2004 Jan;14(1):10-8. doi: 10.1016/s0960-8966(03)00169-x. Neuromuscul Disord. 2004. PMID: 14659407

7

[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias].

Lesca G, Demarquay G, Llense S, Streichenberger N, Petiot P, Michel-Calemard L, Récan D, Vial C, Ollagnon-Roman E. Lesca G, et al. Among authors: llense s. Rev Neurol (Paris). 2003 Sep;159(8-9):775-80. Rev Neurol (Paris). 2003. PMID: 13679720 French.

8

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: llense s. Hum Mutat. 2007 Feb;28(2):183-95. doi: 10.1002/humu.20422. Hum Mutat. 2007. PMID: 17041906

9

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

Billuart P, Vinet MC, des Portes V, Llense S, Richard L, Moutard ML, Recan D, Brüls T, Bienvenu T, Kahn A, Beldjord C, Chelly J. Billuart P, et al. Among authors: llense s. Hum Mol Genet. 1996 Jul;5(7):977-9. doi: 10.1093/hmg/5.7.977. Hum Mol Genet. 1996. PMID: 8817333

10

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. Trabelsi M, et al. Among authors: llense s. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285821

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