Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene: Long-Term Follow-Up and Treatment Response von Naoumova, Rossi P, Tosi, Isabella, Patel, Dilip, Neuwirth, Clare, Horswell, Stuart D, Marais, A David, van Heyningen, Charles, Soutar, Anne K

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Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia von Sun, Xi-Ming, Eden, Emily R., Tosi, Isabella, Neuwirth, Clare K., Wile, David, Naoumova, Rossi P., Soutar, Anne K.

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Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes von Thompson, GR, Seed, M, Naoumova, RP, Neuwirth, C, Walji, S, Aitman, TJ, Scott, J, Myant, NB, Soutar, AK

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Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia von Soutar, Anne K, Naoumova, Rossitza P, Traub, Linton M

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Current management of severe homozygous hypercholesterolaemias von Naoumova, Rossi P, Thompson, Gilbert R, Soutar, Anne K

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Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17 von Burden, Jemima J., Sun, Xi-Ming, García, Ana Bárbara García, Soutar, Anne K.

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The effect of peroxisome-proliferator-activated receptor-alpha on the activity of the cholesterol 7 alpha-hydroxylase gene von Patel, D D, Knight, B L, Soutar, A K, Gibbons, G F, Wade, D P

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Phenotypic Variation in Heterozygous Familial Hypercholesterolemia: A Comparison of Chinese Patients With the Same or Similar Mutations in the LDL Receptor Gene in China or Canada von Pimstone, Simon N, Sun, Xi-Ming, du Souich, Christele, Frohlich, Jiri J, Hayden, Michael R, Soutar, Anne K

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Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane von Riddell, D R, Sun, X M, Stannard, A K, Soutar, A K, Owen, J S

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Human lysozyme gene mutations cause hereditary systemic amyloidosis von Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J.

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Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment von Naoumova, Rossitza P., Neuwirth, Clare, Lee, Philip, Miller, J.Paul, Taylor, Kenneth G., Soutar, Anne K.

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Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families von Eden, Emily R., Naoumova, Rossitza P., Burden, Jemima J., McCarthy, Mark I., Soutar, Anne K.

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Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia von Norman, D, Sun, X M, Bourbon, M, Knight, B L, Naoumova, R P, Soutar, A K

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Determinants of Variable Response to Statin Treatment in Patients With Refractory Familial Hypercholesterolemia von O’Neill, Frans H, Patel, Dilip D, Knight, Brian L, Neuwirth, Clare K.Y, Bourbon, Mafalda, Soutar, Anne K, Taylor, Graham W, Thompson, Gilbert R, Naoumova, Rossitza P

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Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency von Albrecht, Christiane, Baynes, Kevin, Sardini, Alessandro, Schepelmann, Silke, Eden, Emily R, Davies, Simon W, Higgins, Christopher F, Feher, Michael D, Owen, James S, Soutar, Anne K

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Update on low density lipoprotein receptor mutations von Soutar, A K

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The Transmembrane Domain and PXXP Motifs of ApoE Receptor 2 Exclude It from Carrying out Clathrin-mediated Endocytosis von Sun, Xi-Ming, Soutar, Anne K.

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Expression in vitro of alternatively spliced variants of the messenger RNA for human apolipoprotein E receptor‐2 identified in human tissues by ribonuclease protection assays von Sun, Xi‐Ming, Soutar, Anne K.

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Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family von Naoumova, Rossitza P, Neuwirth, Clare, Pottinger, Bruce, Whittal, Ros, Humphries, Stephen E, Soutar, Anne K

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Variation in lipoprotein(a) concentration associated with different apolipoprotein(a) alleles von PEROMBELON, Y. F. N, SOUTAR, A. K, KNIGHT, B. L

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