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Results: 1-3 |
Results: 3
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Authors: Bomont, P Cavalier, L Blondeau, F Hamida, CB Belal, S Tazir, M Demir, E Topaloglu, H Korinthenberg, R Tuysuz, B Landrieu, P Hentati, F Koenig, M
Citation: P. Bomont et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy, NAT GENET, 26(3), 2000, pp. 370-374
Giant axonal neuropathy locus refinement to a < 590 kb critical interval
Authors: Cavalier, L BenHamida, C Amouri, R Belal, S Bomont, P Lagarde, N Gressin, L Callen, D Demir, E Topaloglu, H Landrieu, P Ioos, C Ben Hamida, M Koenig, M Hentati, F
Citation: L. Cavalier et al., Giant axonal neuropathy locus refinement to a < 590 kb critical interval, EUR J HUM G, 8(7), 2000, pp. 527-534
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy andperipheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
Authors: Bomont, P Watanabe, M Gershoni-Barush, R Shizuka, M Tanaka, M Sugano, J Guiraud-Chaumeil, C Koenig, M
Citation: P. Bomont et al., Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy andperipheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23, EUR J HUM G, 8(12), 2000, pp. 986-990
Risultati: 1-3 |