Depienne C - Search Results

1

Mental deficiency in three families with SPG4 spastic paraplegia.

Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A. Ribaï P, et al. Among authors: depienne c. Eur J Hum Genet. 2008 Jan;16(1):97-104. doi: 10.1038/sj.ejhg.5201922. Epub 2007 Oct 24. Eur J Hum Genet. 2008. PMID: 17957230

2

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, Leguern E. Naïmi M, et al. Among authors: depienne c. Am J Med Genet A. 2005 Jul 15;136(2):136-9. doi: 10.1002/ajmg.a.30790. Am J Med Genet A. 2005. PMID: 15940694

3

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A. Depienne C, et al. J Med Genet. 2006 Mar;43(3):259-65. doi: 10.1136/jmg.2005.035311. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055926 Free PMC article.

4

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. Namekawa M, et al. Among authors: depienne c. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e. Neurology. 2006. PMID: 16401858

5

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Elleuch N, et al. Among authors: depienne c. Neurology. 2006 Mar 14;66(5):654-9. doi: 10.1212/01.wnl.0000201185.91110.15. Neurology. 2006. PMID: 16534102

6

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. Depienne C, et al. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

7

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.

8

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. Klebe S, et al. Among authors: depienne c. Neurogenetics. 2007 Apr;8(2):155-7. doi: 10.1007/s10048-006-0074-9. Epub 2007 Jan 5. Neurogenetics. 2007. PMID: 17205300 No abstract available.

9

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A. Depienne C, et al. Hum Genet. 2006 Feb;118(6):776. Hum Genet. 2006. PMID: 17297686 No abstract available.

10

Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A. Depienne C, et al. Hum Genet. 2006 Feb;118(6):781. Hum Genet. 2006. PMID: 17297708 No abstract available.

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