Depienne C - Search Results

1

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Depienne C, et al. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22. Lancet Neurol. 2013. PMID: 23707145 Free 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

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E, Baulac S. Chabrol E, et al. Among authors: depienne c. Arch Neurol. 2007 Feb;64(2):217-22. doi: 10.1001/archneur.64.2.217. Arch Neurol. 2007. PMID: 17296837

6

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Brice A, Durr A. Depienne C, et al. Hum Genet. 2006 Feb;118(6):782. Hum Genet. 2006. PMID: 17297711 No abstract available.

7

Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Brice A, Durr A. Depienne C, et al. Hum Genet. 2006 Feb;118(6):785. Hum Genet. 2006. PMID: 17297722 No abstract available.

8

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G. Klebe S, et al. Among authors: depienne c. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):854-61. doi: 10.1002/ajmg.b.30518. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17503452

9

A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Hanein S, Dürr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G. Hanein S, et al. Among authors: depienne c. Hum Genet. 2007 Nov;122(3-4):261-73. doi: 10.1007/s00439-007-0396-1. Epub 2007 Jun 28. Hum Genet. 2007. PMID: 17605047

10

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

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