Guicheney P - Search Results

1

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Moghadaszadeh B, et al. Among authors: guicheney p. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

2

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: guicheney p. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.

3

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Demir E, et al. Among authors: guicheney p. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992252 Free PMC article.

4

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.

5

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: guicheney p. Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882. Am J Hum Genet. 1998. PMID: 9585610 Free PMC article.

6

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.

Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: guicheney p. Neuromuscul Disord. 1999 Oct;9(6-7):376-82. doi: 10.1016/s0960-8966(99)00051-6. Neuromuscul Disord. 1999. PMID: 10545040

7

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L. Mercuri E, et al. Among authors: guicheney p. Neuromuscul Disord. 2002 Oct;12(7-8):631-8. doi: 10.1016/s0960-8966(02)00023-8. Neuromuscul Disord. 2002. PMID: 12207930

8

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.

Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P. Petit N, et al. Among authors: guicheney p. Hum Mol Genet. 2003 May 1;12(9):1045-53. doi: 10.1093/hmg/ddg115. Hum Mol Genet. 2003. PMID: 12700173

9

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Quijano-Roy S, Renault F, Romero N, Guicheney P, Fardeau M, Estournet B. Quijano-Roy S, et al. Among authors: guicheney p. Muscle Nerve. 2004 Feb;29(2):292-9. doi: 10.1002/mus.10544. Muscle Nerve. 2004. PMID: 14755496

10

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

264 results

Search Page