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

ανά Hůlková, Helena, Elleder, Milan
Έκδοση 2010

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

ανά Pika, Tomas, Latalova, Pavla, Hulkova, Helena, Flodr, Patrik, Mejzlik, Vladimir, Scudla, Vlastimil
Τόπος έκδοσης 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...

ανά Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Έκδοση 2014

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

ανά Hůlková, Helena, Poupětová, Helena, Harzer, Klaus, Mistry, Pramod, Aerts, Johannes M. F. G., Elleder, Milan
Έκδοση 2010

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

ανά Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Nakamura, Makiko, Hulkova, Helena, Krylov, Vladimir, Kryspinova, Lenka, Jahnova, Helena
Έκδοση 2013

Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

ανά Majtan, Tomas, Hůlková, Helena, Park, Insun, Krijt, Jakub, Kožich, Viktor, Bublil, Erez M., Kraus, Jan P.
Τόπος έκδοσης FASEB J (2017)

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

ανά Sticova, Eva, Elleder, Milan, Hulkova, Helena, Luksan, Ondrej, Sauer, Martin, Wunschova-Moudra, Irena, Novotny, Jan, Jirsa, Milan
Έκδοση 2013

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

ανά Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef
Έκδοση 2008

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

ανά Bublil, Erez M., Majtan, Tomas, Park, Insun, Carrillo, Richard S., Hůlková, Helena, Krijt, Jakub, Kožich, Viktor, Kraus, Jan P.
Τόπος έκδοσης J Clin Invest (2016)

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

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

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

ανά Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Τόπος έκδοσης Orphanet J Rare Dis (2020)

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

ανά Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, Dita, Vyleťal, Petr, Sovová, Jana, Cossette, Patrick, Andermann, Eva, Andermann, Frederick, Kmoch, Stanislav
Τόπος έκδοσης Eur J Hum Genet (2020)

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

ανά 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.
Έκδοση 2014

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

ανά 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
Έκδοση 2011

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

ανά 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
Έκδοση 2011

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

ανά 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.
Τόπος έκδοσης Brain (2015)

Mutations in ANTXR1 Cause GAPO Syndrome

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2009

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

ανά Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Vyleťal, Petr, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B., Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C., Alper, Seth L., Greka, Anna, Bleyer, Anthony J., Kmoch, Stanislav
Τόπος έκδοσης J Am Soc Nephrol (2018)

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

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2016)