Search Results - "Přistoupilová, A."

Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci by Stránecký, V, Neřoldová, M, Hodaňová, K, Hartmannová, H, Piherová, L, Zemánková, P, Přistoupilová, A, Vrablík, M, Adámková, V, Kmoch, S, Jirsa, M

“…Some patients are susceptible to statin-associated myopathy (SAM) either because of genetic variations affecting statin uptake and metabolism, or because they…”
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Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene by Kolářová, H, Tesařová, M, Švecová, Š, Stránecký, V, Přistoupilová, A, Zima, T, Uhrová, J, Volgina, S Y, Zeman, J, Honzík, T

“…Lipoprotein lipase (LPL) deficiency, caused by mutations in the LPL gene, is a rare autosomal recessive disorder manifesting in early childhood with recurrent…”
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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness by Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

“…Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like…”
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P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology by Kubota, A, Melia, M.J, Ortolano, S, Vilchez, J.J, Gamez, J, Tanji, K, Bonilla, E, Palenzuela, L, Fernandez-Cadenas, I, Pristoupilova, A, Garcia-Arumi, E, Andreu, A.L, Navarro, C, Marti, R, Hirano, M

“…Limb-girdle muscular dystrophy 1F (LGMD1F) is an autosomal dominant muscular disease affecting a Spanish family. Using whole genome sequencing, we identified a…”
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