Depienne C - Search Results

1

Evidence of mosaicism in SPAST variant carriers in four French families.

Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G. Angelini C, et al. Among authors: depienne c. Eur J Hum Genet. 2021 Jul;29(7):1158-1163. doi: 10.1038/s41431-021-00847-4. Epub 2021 May 6. Eur J Hum Genet. 2021. PMID: 33958741 Free PMC article.

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

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

4

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

5

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

6

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.

7

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.

8

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.

9

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553.

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):782. Hum Genet. 2006. PMID: 17297709 No abstract available.

10

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554.

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):782. Hum Genet. 2006. PMID: 17297710 No abstract available.

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