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Page 1
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Hazan J, et al. Among authors: fonknechten n. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J. Fonknechten N, et al. Hum Mol Genet. 2000 Mar 1;9(4):637-44. doi: 10.1093/hmg/9.4.637. Hum Mol Genet. 2000. PMID: 10699187
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A. Bürger J, et al. Among authors: fonknechten n. Eur J Hum Genet. 2000 Oct;8(10):771-6. doi: 10.1038/sj.ejhg.5200528. Eur J Hum Genet. 2000. PMID: 11039577
The DNA sequence and analysis of human chromosome 14.
Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Brüls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Ségurens B, Anière F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Ménard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufossé-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guérin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quétier F, Waterston R, Hood L, Weissenbach J. Heilig R, et al. Among authors: fonknechten n. Nature. 2003 Feb 6;421(6923):601-7. doi: 10.1038/nature01348. Epub 2003 Jan 1. Nature. 2003. PMID: 12508121
Unique features revealed by the genome sequence of Acinetobacter sp. ADP1, a versatile and naturally transformation competent bacterium.
Barbe V, Vallenet D, Fonknechten N, Kreimeyer A, Oztas S, Labarre L, Cruveiller S, Robert C, Duprat S, Wincker P, Ornston LN, Weissenbach J, Marlière P, Cohen GN, Médigue C. Barbe V, et al. Among authors: fonknechten n. Nucleic Acids Res. 2004 Oct 28;32(19):5766-79. doi: 10.1093/nar/gkh910. Print 2004. Nucleic Acids Res. 2004. PMID: 15514110 Free PMC article.
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Diérich A, Hauw JJ, Melki J. Tarrade A, et al. Among authors: fonknechten n. Hum Mol Genet. 2006 Dec 15;15(24):3544-58. doi: 10.1093/hmg/ddl431. Epub 2006 Nov 13. Hum Mol Genet. 2006. PMID: 17101632
28 results