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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: samson d. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
Paternotte C, Rudnicki D, Fizames C, Davoine CS, Mavel D, Dürr A, Samson D, Marquette C, Muselet D, Vega-Czarny N, Drouot N, Voit T, Fontaine B, Gyapay G, Auburger G, Weissenbach J, Hazan J. Paternotte C, et al. Among authors: samson d. Genome Res. 1998 Nov;8(11):1216-27. doi: 10.1101/gr.8.11.1216. Genome Res. 1998. PMID: 9847083 Free PMC article.
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. Among authors: samson d. Hum Mol Genet. 2000 Mar 1;9(4):637-44. doi: 10.1093/hmg/9.4.637. Hum Mol Genet. 2000. PMID: 10699187
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Among authors: samson d. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: samson d. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840
A transcriptional Map of the FMF region.
Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL, Devaud C, Chiannilkulchai N, Fizames C, Samson D, Cruaud C, Caloustian C, Gyapay G, Delpech M, Weissenbach J. Bernot A, et al. Among authors: samson d. Genomics. 1998 Jun 1;50(2):147-60. doi: 10.1006/geno.1998.5313. Genomics. 1998. PMID: 9653642
Mechanisms of evolution in Rickettsia conorii and R. prowazekii.
Ogata H, Audic S, Renesto-Audiffren P, Fournier PE, Barbe V, Samson D, Roux V, Cossart P, Weissenbach J, Claverie JM, Raoult D. Ogata H, et al. Among authors: samson d. Science. 2001 Sep 14;293(5537):2093-8. doi: 10.1126/science.1061471. Science. 2001. PMID: 11557893
449 results