Petit N - Search Results

1

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: petit n. Neuromuscul Disord. 2002 Oct;12(7-8):631-8. doi: 10.1016/s0960-8966(02)00023-8. Neuromuscul Disord. 2002. PMID: 12207930

2

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: petit n. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

3

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. Hum Mol Genet. 2003 May 1;12(9):1045-53. doi: 10.1093/hmg/ddg115. Hum Mol Genet. 2003. PMID: 12700173

4

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P. Allamand V, et al. Among authors: petit n. EMBO Rep. 2006 Apr;7(4):450-4. doi: 10.1038/sj.embor.7400648. Epub 2006 Feb 24. EMBO Rep. 2006. PMID: 16498447 Free PMC article.

5

Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations.

Boulday G, Blécon A, Petit N, Chareyre F, Garcia LA, Niwa-Kawakita M, Giovannini M, Tournier-Lasserve E. Boulday G, et al. Among authors: petit n. Dis Model Mech. 2009 Mar-Apr;2(3-4):168-77. doi: 10.1242/dmm.001263. Epub 2009 Feb 2. Dis Model Mech. 2009. PMID: 19259391 Free PMC article.

6

Technical knockout, a Drosophila model of mitochondrial deafness.

Toivonen JM, O'Dell KM, Petit N, Irvine SC, Knight GK, Lehtonen M, Longmuir M, Luoto K, Touraille S, Wang Z, Alziari S, Shah ZH, Jacobs HT. Toivonen JM, et al. Among authors: petit n. Genetics. 2001 Sep;159(1):241-54. doi: 10.1093/genetics/159.1.241. Genetics. 2001. PMID: 11560901 Free PMC article.

7

Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development.

Petit N, Blécon A, Denier C, Tournier-Lasserve E. Petit N, et al. Gene Expr Patterns. 2006 Jun;6(5):495-503. doi: 10.1016/j.modgep.2005.11.001. Epub 2006 Feb 7. Gene Expr Patterns. 2006. PMID: 16455310

8

Developmental changes in heteroplasmy level and mitochondrial gene expression in a Drosophila subobscura mitochondrial deletion mutant.

Petit N, Touraille S, Debise R, Morel F, Renoux M, Lécher P, Alziari S. Petit N, et al. Curr Genet. 1998 May;33(5):330-9. doi: 10.1007/s002940050344. Curr Genet. 1998. PMID: 9618583

9

The nuclear genome is involved in heteroplasmy control in a mitochondrial mutant strain of Drosophila subobscura.

Farge G, Touraille S, Le Goff S, Petit N, Renoux M, Morel F, Alziari S. Farge G, et al. Among authors: petit n. Eur J Biochem. 2002 Feb;269(3):998-1005. doi: 10.1046/j.0014-2956.2001.02737.x. Eur J Biochem. 2002. PMID: 11846802 Free article.

10

Localization by ultrastructural in situ hybridization of mitochondrial transcripts in epithelial cells of a Drosophila subobscura deletion mutant.

Lécher P, Petit N, Beziat F, Alziari S. Lécher P, et al. Among authors: petit n. Eur J Cell Biol. 1996 Dec;71(4):423-7. Eur J Cell Biol. 1996. PMID: 8980915 No abstract available.

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