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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: cruaud c. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P. Nissinen M, et al. Among authors: cruaud c. Am J Hum Genet. 1996 Jun;58(6):1177-84. Am J Hum Genet. 1996. PMID: 8651294 Free PMC article.
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: cruaud c. Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0. Nature. 1996. PMID: 8878478
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: cruaud c. 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: cruaud c. Genomics. 1998 Jun 1;50(2):147-60. doi: 10.1006/geno.1998.5313. Genomics. 1998. PMID: 9653642
198 results