Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

Por Hůlková, Helena, Elleder, Milan
Publicado em 2010

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

Por Pika, Tomas, Latalova, Pavla, Hulkova, Helena, Flodr, Patrik, Mejzlik, Vladimir, Scudla, Vlastimil
Publicado no Orphanet J Rare Dis (2015)

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 ye...

Por Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Publicado em 2014

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

Por Hůlková, Helena, Poupětová, Helena, Harzer, Klaus, Mistry, Pramod, Aerts, Johannes M. F. G., Elleder, Milan
Publicado em 2010

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

Por Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Nakamura, Makiko, Hulkova, Helena, Krylov, Vladimir, Kryspinova, Lenka, Jahnova, Helena
Publicado em 2013

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Por Sticova, Eva, Elleder, Milan, Hulkova, Helena, Luksan, Ondrej, Sauer, Martin, Wunschova-Moudra, Irena, Novotny, Jan, Jirsa, Milan
Publicado em 2013

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

Por Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef
Publicado em 2008

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model

Por Bublil, Erez M., Majtan, Tomas, Park, Insun, Carrillo, Richard S., Hůlková, Helena, Krijt, Jakub, Kožich, Viktor, Kraus, Jan P.
Publicado no J Clin Invest (2016)

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

Por Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Publicado em 2008

Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation

Por Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Publicado em 2014

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Por 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
Publicado em 2011

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Por 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
Publicado em 2011

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

Por Martins, Carla, Hůlková, Helena, Dridi, Larbi, Dormoy-Raclet, Virginie, Grigoryeva, Lubov, Choi, Yoo, Langford-Smith, Alexander, Wilkinson, Fiona L., Ohmi, Kazuhiro, DiCristo, Graziella, Hamel, Edith, Ausseil, Jerôme, Cheillan, David, Moreau, Alain, Svobodová, Eva, Hájková, Zuzana, Tesařová, Markéta, Hansíková, Hana, Bigger, Brian W., Hrebícek, Martin, Pshezhetsky, Alexey V.
Publicado no Brain (2015)

Mutations in ANTXR1 Cause GAPO Syndrome

Por Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Publicado em 2013

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Por Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
Publicado em 2009

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado no Am J Hum Genet (2016)

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Por Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Publicado em 2013