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Results: 1-7 |
Results: 7
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
Authors: Ribeiro, I Marcao, A Amaral, O Miranda, MCS Vanier, MT Millat, G
Citation: I. Ribeiro et al., Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations, HUM GENET, 109(1), 2001, pp. 24-32
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
Authors: Millat, G Chikh, K Naureckiene, S Sleat, DE Fensom, AH Higaki, K Elleder, M Lobel, P Vanier, MT
Citation: G. Millat et al., Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group, AM J HU GEN, 69(5), 2001, pp. 1013-1021
Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
Authors: Millat, G Marcais, C Tomasetto, C Chikh, K Fensom, AH Harzer, K Wenger, DA Ohno, K Vanier, MT
Citation: G. Millat et al., Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop, AM J HU GEN, 68(6), 2001, pp. 1373-1385
Genotype-phenotype relationship of Niemann-Pick disease type C: a possiblecorrelation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
Authors: Yamamoto, T Ninomiya, H Matsumoto, M Ohta, Y Nanba, E Tsutsumi, Y Yamakawa, K Millat, G Vanier, MT Pentchev, PG Ohno, K
Citation: T. Yamamoto et al., Genotype-phenotype relationship of Niemann-Pick disease type C: a possiblecorrelation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts, J MED GENET, 37(9), 2000, pp. 707-711
Decline of the intertidal blue mussel (Mytilus edulis) stock at the coast of Lower Saxony (Wadden Sea) and influence of mussel fishery on the development of young mussel beds
Authors: Herlyn, M Millat, G
Citation: M. Herlyn et G. Millat, Decline of the intertidal blue mussel (Mytilus edulis) stock at the coast of Lower Saxony (Wadden Sea) and influence of mussel fishery on the development of young mussel beds, HYDROBIOL, 426(1-3), 2000, pp. 203-210
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
Authors: Yamamoto, T Nanba, E Ninomiya, H Higaki, K Taniguchi, M Zhang, HD Akaboshi, S Watanabe, Y Takeshima, T Inui, K Okada, S Tanaka, A Sakuragawa, N Millat, G Vanier, MT Morris, JA Pentchev, PG Ohno, K
Citation: T. Yamamoto et al., NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C, HUM GENET, 105(1-2), 1999, pp. 10-16
Niemann-Pick C1 disease: The I1061T substitutions a frequent mutant allelein patients of Western European descent and correlates with a classic juvenile phenotype
Authors: Millat, G Marcais, C Rafi, MA Yamamoto, T Morris, JA Pentchev, PG Ohno, K Wenger, DA Vanier, MT
Citation: G. Millat et al., Niemann-Pick C1 disease: The I1061T substitutions a frequent mutant allelein patients of Western European descent and correlates with a classic juvenile phenotype, AM J HU GEN, 65(5), 1999, pp. 1321-1329
Risultati: 1-7 |