Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Delphine Mavel"'
Autor:
Jamilé Hazan, Alexis Brice, Jean Weissenbach, Nuria Fonknechten, François Artiguenave, Bertrand Fontaine, Delphine Mavel, Jean-Marc Burgunder, Roland Heilig, Jean-François Prud'homme, Corinne Cruaud, Valérie Barbe, Laurence Cattolico, Delphine Samson, Philippe Brottier, Patrick Wincker, Caroline Paternotte, Claire-Sophie Davoine, Alexandra Durr
Publikováno v:
Nature Genetics. 23:296-303
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Among the four loci causing AD-HSP identified so far, the SPG4 locus at ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79290d72b6271efc20e034052a4bec6e
https://doi.org/10.1038/15472
https://doi.org/10.1038/15472
Autor:
Aye Mon Tin-Wollam, Gabor Gyapay, Asao Fujiyama, Eric Pelletier, Virginie Vico, William Saurin, Jean Weissenbach, Michael J. Levy, Delphine Muselet, Fumihiko Matsuda, Jean Louis Petit, Leroy Hood, Delphine Mavel, Corinne Da Silva, Thomas Brüls, François Artiguenave, Shizen Qin, Roland Heilig, Richard K. Wilson, Lee Rowen
Publikováno v:
Nature. 409(6822)
We report the construction of a tiling path of around 650 clones covering more than 99% of human chromosome 14. Clone overlap information to assemble the map was derived by comparing fully sequenced clones with a database of clone end sequences (sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1914c768de51a81468fc1a4b5a8efc
https://pubmed.ncbi.nlm.nih.gov/11237018
https://pubmed.ncbi.nlm.nih.gov/11237018
Autor:
Cécile Fizames, Claire-Sophie Davoine, Jean Weissenbach, Corinne Cruaud, Delphine Samson, Caroline Paternotte, Nuria Fonknechten, Bertrand Fontaine, Gabor Gyapay, Jamilé Hazan, Roland Heilig, Delphine Muselet, Delphine Mavel, Nathalie Vega-Czarny, Alexis Brice
Publikováno v:
Genomics
Genomics, 1999, 60 (3), pp.309-319. ⟨10.1006/geno.1999.5932⟩
Genomics, 1999, 60 (3), pp.309-319. ⟨10.1006/geno.1999.5932⟩
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf5bec03143a54ae21775d41505cc2b
https://hal.science/hal-03772563
https://hal.science/hal-03772563
Autor:
Georg Auburger, Claire Sophie Davoine, Caroline Paternotte, Jamilé Hazan, Alexandra Durr, Delphine Samson, Delphine Mavel, Delphine Muselet, Doda Rudnicki, Nathalie Vega-Czarny, Bertrand Fontaine, Gabor Gyapay, Catherine Marquette, Nathalie Drouot, T. Voit, Jean Weissenbach, Cécile Fizames
Publikováno v:
Genome research. 8(11)
Familial spastic paraplegia (FSP) is a heterogeneous group of degenerative disorders of the central motor system characterized by progressive spasticity of the lower limbs. FSP has been classified (Sutherland 1975) according to the mode of inheritanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf58d7a2cfd81e2d52262ec4c380853
https://pubmed.ncbi.nlm.nih.gov/9847083
https://pubmed.ncbi.nlm.nih.gov/9847083