Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis von Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis von Kousi, Maria, Siintola, Eija, Dvorakova, Lenka, Vlaskova, Hana, Turnbull, Julie, Topcu, Meral, Yuksel, Deniz, Gokben, Sarenur, Minassian, Berge A., Elleder, Milan, Mole, Sara E., Lehesjoki, Anna-Elina

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Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin von Sikora, Jakub, Harzer, Klaus, Elleder, Milan

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Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment von Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Kraus, Jan P.

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Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics von Majer, Filip, Pelak, Ondrej, Kalina, Tomas, Vlaskova, Hana, Dvorakova, Lenka, Honzik, Tomas, Palecek, Tomas, Kuchynka, Petr, Masek, Martin, Zeman, Jiri, Elleder, Milan, Sikora, Jakub

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Right Ventricular Involvement in Fabry Disease von Palecek, Tomas, MD, Dostalova, Gabriela, MD, Kuchynka, Petr, MD, Karetova, Debora, MD, PhD, Bultas, Jan, MD, PhD, Elleder, Milan, MD, PhD, Linhart, Ales, MD, PhD

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Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying... von Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C., Harzer, Klaus

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Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C von VANKOVA, Jitka, STEPANOVA, Iva, JECH, Robert, ELLEDER, Milan, LIG LING, MIGNOT, Emmanuel, NISHINO, Seiji, NEVSIMALOVA, Sona

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group von Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.

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Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male von Palecek, Tomas, Tesarova, Marketa, Kuchynka, Petr, Dytrych, Vladimir, Elleder, Milan, Hulkova, Helena, Hansikova, Hana, Honzik, Tomas, Zeman, Jiří, Linhart, Ales

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Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens von Hůlková, Helena, Elleder, Milan

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Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson Syndrome von Cebecauerova, Dita, Jirasek, Tomas, Budisova, Lucie, Mandys, Vaclav, Volf, Vladimir, Novotna, Zorka, Subhanova, Iva, Hrebicek, Martin, Elleder, Milan, Jirsa, Milan

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Diagnosis of Niemann–Pick type C (NPC) – Decisions at the cell level. Pathologist’s report von Elleder, Milan

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Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2 von Klünemann, Hans H., Elleder, Milan, Kaminski, Wolfgang E., Snow, Karen, Peyser, Janis M., O'Brien, John F., Munoz, David, Schmitz, Gerd, Klein, Helmfried E., Pendlebury, William W.

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birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations von Poupětová, Helena, Ledvinová, Jana, Berná, Linda, Dvořáková, Lenka, Kožich, Viktor, Elleder, Milan

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Cellular and tissue localization of globotriaosylceramide in Fabry disease von Elleder, Milan

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Letter to the editor von Elleder, Milan

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Letter to the editor von Elleder, Milan

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Letter to the editor von Elleder, Milan

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Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease von Lohse, P, Maas, S, Lohse, P, Elleder, M, Kirk, J M, Besley, G T, Seidel, D

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