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Results: 1-7 |
Results: 7
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
Prenatal testing for late infantile neuronal ceroid lipofuscinosis
Authors: Berry-Kravis, E Sleat, DE Sohar, I Meyer, P Donnelly, R Lobel, P
Citation: E. Berry-kravis et al., Prenatal testing for late infantile neuronal ceroid lipofuscinosis, ANN NEUROL, 47(2), 2000, pp. 254-257
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
Authors: Tyynela, J Sohar, I Sleat, DE Gin, RM Donnelly, RJ Baumann, M Haltia, M Lobel, P
Citation: J. Tyynela et al., A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration, EMBO J, 19(12), 2000, pp. 2786-2792
Identification of HE1 as the second gene of Niemann-Pick C disease
Authors: Naureckiene, S Sleat, DE Lackland, H Fensom, A Vanier, MT Wattiaux, R Jadot, M Lobel, P
Citation: S. Naureckiene et al., Identification of HE1 as the second gene of Niemann-Pick C disease, SCIENCE, 290(5500), 2000, pp. 2298
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models
Authors: Sohar, I Sleat, DE Jadot, M Lobel, P
Citation: I. Sohar et al., Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models, J NEUROCHEM, 73(2), 1999, pp. 700-711
Subcellular localization of mannose 6-phosphate glycoproteins in rat brain
Authors: Jadot, M Lin, L Sleat, DE Sohar, I Hsu, MS Pintar, J Dubois, F Wattiaux-De Coninck, S Wattiaux, R Lobel, P
Citation: M. Jadot et al., Subcellular localization of mannose 6-phosphate glycoproteins in rat brain, J BIOL CHEM, 274(30), 1999, pp. 21104-21113
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
Authors: Sleat, DE Gin, RM Sohar, I Wisniewski, K Sklower-Brooks, S Pullarkat, RK Palmer, DN Lerner, TJ Boustany, RM Uldall, P Siakotos, AN Donnelly, RJ Lobel, P
Citation: De. Sleat et al., Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder, AM J HU GEN, 64(6), 1999, pp. 1511-1523
Risultati: 1-7 |