Historical changes in frequency of extreme floods in Prague von Elleder, L

Volltext

Reconstruction of the 1784 flood hydrograph for the Vltava River in Prague, Czech Republic von Elleder, L.

Volltext

Low water stage marks on hunger stones: verification for the Elbe from 1616 to 2015 von Elleder, Libor, Kasparek, Ladislav, Sirova, Jolana, Kabelka, Tomas

Volltext

Flood frequency and seasonality in the Sázava river catchment based on historical cases von ELLEDER, L

Volltext

Global Analysis of Host-Pathogen Interactions that Regulate Early-Stage HIV-1 Replication von König, Renate, Zhou, Yingyao, Elleder, Daniel, Diamond, Tracy L., Bonamy, Ghislain M.C., Irelan, Jeffrey T., Chiang, Chih-yuan, Tu, Buu P., De Jesus, Paul D., Lilley, Caroline E., Seidel, Shannon, Opaluch, Amanda M., Caldwell, Jeremy S., Weitzman, Matthew D., Kuhen, Kelli L., Bandyopadhyay, Sourav, Ideker, Trey, Orth, Anthony P., Miraglia, Loren J., Bushman, Frederic D., Young, John A., Chanda, Sumit K.

Volltext

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency von Majer, F., Vlaskova, H., Krol, L., Kalina, T., Kubanek, M., Stolnaya, L., Dvorakova, L., Elleder, M., Sikora, J.

Volltext

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis von Sharifi, A., Kousi, M., Sagné, C., Bellenchi, G.C., Morel, L., Darmon, M., Hůlková, H., Ruivo, R., Debacker, C., El Mestikawy, S., Elleder, M., Lehesjoki, A.-E., Jalanko, A., Gasnier, B., Kyttälä, A.

Volltext

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

Volltext

Relationship between X-inactivation and clinical involvement in fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population von DOBROVOLNY, Robert, DVORAKOVA, Lenka, LEDVINOVA, Jana, MAGAGE, Sudheera, BULTAS, Jan, LUBANDA, Jean C, ELLEDER, Milan, KARETOVA, Debora, PAVLIKOVA, Marketa, HREBICEK, Martin

Volltext

Identification of a 3-aminoimidazo[1,2-a]pyridine inhibitor of HIV-1 reverse transcriptase von Elleder, Daniel, Baiga, Thomas J, Russell, Rebecca L, Naughton, John A, Hughes, Stephen H, Noel, Joseph P, Young, John A T

Volltext

Link between a novel human γD-crystallin allele and a unique cataract phenotype explained by protein crystallography von KMOCH, S, BRYNDA, J, ASFAW, B, BEZOUSKA, K, NOVAK, P, REZACOVA, P, ONDROVA, L, FILIPEC, M, SEDLACEK, J, ELLEDER, M

Volltext

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease von Hůlková, Helena, Ledvinová, Jana, Kuchař, Ladislav, Šmíd, František, Honzíková, Jitka, Elleder, Milan

Volltext

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

Volltext

The population history of endogenous retroviruses in mule deer (Odocoileus hemionus) von Kamath, Pauline L, Elleder, Daniel, Bao, Le, Cross, Paul C, Powell, John H, Poss, Mary

Volltext

Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder? von Dvorakova, L., Sikora, J., Hrebicek, M., Hulkova, H., Bouckova, M., Stolnaja, L., Elleder, M.

Volltext

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine... von Maclean, Kenneth N., Sikora, Jakub, Kožich, Viktor, Jiang, Hua, Greiner, Lori S., Kraus, Eva, Krijt, Jakub, Overdier, Katherine H., Collard, Renata, Brodsky, Gary L., Meltesen, Lynne, Crnic, Linda S., Allen, Robert H., Stabler, Sally P., Elleder, Milan, Rozen, Rima, Patterson, David, Kraus, Jan P.

Volltext

Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient von Elleder, M., Jeřábková, M., Befekadu, A., Hřebíček, M., Berná, L., Ledvinová, J., Hůlková, H., Rosewich, H., Schymik, N., Paton, B. C., Harzer, K.

Volltext

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy von Vylet'al, P, Hůlková, H, Živná, M, Berná, L, Novák, P, Elleder, M, Kmoch, S

Volltext

Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extracti... von Petr, T, Smíd, V, Smídová, J, Hůlková, H, Jirkovská, M, Elleder, M, Muchová, L, Vitek, L, Smíd, F

Volltext

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated... von HULKOVA, H, CERVENKOVA, M, BÖÖR, A, SMID, F, ELLEDER, M, LEDVINOVA, J, TOCHACKOVA, M, HREBICEK, M, POUPETOVA, H, BEFEKADU, A, BERNA, L, PATON, B. C, HARZER, K

Volltext