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Results: 1-7 |
Results: 7
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Authors: Nicole, S Davoine, CS Topaloglu, H Cattolico, L Barral, D Beighton, P Ben Hamida, C Hammouda, H Cruaud, C White, PS Samson, D Urtizberea, JA Lehmann-Horn, F Weissenbach, J Hentati, F Fontaine, B
Citation: S. Nicole et al., Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia), NAT GENET, 26(4), 2000, pp. 480-483
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
Authors: Fonknechten, N Mavel, D Byrne, P Davoine, CS Cruaud, C Boentsch, 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 Durr, A Hazan, J
Citation: N. Fonknechten et al., Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia, HUM MOL GEN, 9(4), 2000, pp. 637-644
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
Authors: Zander, C Yuan, QP Lindblad, K Stevanin, G Durr, A Davoine, CS Hazan, J Fontaine, B Brice, A Schalling, M
Citation: C. Zander et al., No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24, NEUROSCI L, 279(1), 2000, pp. 41-44
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
Authors: Fontaine, B Davoine, CS Durr, A Paternotte, C Feki, I Weissenbach, J Hazan, J Brice, A
Citation: B. Fontaine et al., A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34, AM J HU GEN, 66(2), 2000, pp. 702-707
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
Authors: Hazan, J Fonknechten, N Mavel, D Paternotte, C Samson, D Artiguenave, F Davoine, CS Cruaud, C Durr, A Wincker, P Brottier, P Cattolico, L Barbe, V Burgunder, JM Prud'homme, JF Brice, A Fontaine, B Heilig, R Weissenbach, J
Citation: J. Hazan et al., Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia, NAT GENET, 23(3), 1999, pp. 296-303
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat inchromosome 2p-linked autosomal dominant spastic paraplegia
Authors: Hazan, J Davoine, CS Mavel, D Fonknechten, N Paternotte, C Fizames, C Cruaud, C Samson, D Muselet, D Vega-Czarny, N Brice, A Gyapay, G Heilig, R Fontaine, B Weissenbach, J
Citation: J. Hazan et al., A fine integrated map of the SPG4 locus excludes an expanded CAG repeat inchromosome 2p-linked autosomal dominant spastic paraplegia, GENOMICS, 60(3), 1999, pp. 309-319
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
Authors: Paternotte, C Rudnicki, D Fizames, C Davoine, CS Mavel, D Durr, A Samson, D Marquette, C Muselet, D Vega-Czarny, N Drouot, N Voit, T Fontaine, B Gyapay, G Auburger, G Weissenbach, J Hazan, J
Citation: C. Paternotte et al., Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q, GENOME RES, 8(11), 1998, pp. 1216-1227
Risultati: 1-7 |