Time in science and philosophy : an international study of some current problems /

Por Zeman, Jiri
Publicado em 1971.

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

Por Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor
Publicado em 2010

LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis

Por Cesnekova, Jana, Spacilova, Jana, Hansikova, Hana, Houstek, Josef, Zeman, Jiri, Stiburek, Lukas
Publicado no Oncotarget (2016)

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

Por Stiburek, Lukas, Vesela, Katerina, Hansikova, Hana, Pecina, Petr, Tesarova, Marketa, Cerna, Leona, Houstek, Josef, Zeman, Jiri
Publicado em 2005

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation

Por Stiburek, Lukas, Cesnekova, Jana, Kostkova, Olga, Fornuskova, Daniela, Vinsova, Kamila, Wenchich, Laszlo, Houstek, Josef, Zeman, Jiri
Publicado em 2012

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206

Por Ješina, Pavel, Tesařová, Markéta, Fornůsková, Daniela, Vojtíšková, Alena, Pecina, Petr, Kaplanová, Vilma, Hansíková, Hana, Zeman, Jiří, Houštěk, Josef
Publicado em 2004

Natural history of alpha mannosidosis a longitudinal study

Por Beck, Michael, Olsen, Klaus J, Wraith, James E, Zeman, Jiri, Michalski, Jean-Claude, Saftig, Paul, Fogh, Jens, Malm, Dag
Publicado em 2013

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

Por Pecina, Petr, Houšťková, Hana, Mráček, Tomáš, Pecinová, Alena, Nůsková, Hana, Tesařová, Markéta, Hansíková, Hana, Janota, Jan, Zeman, Jiří, Houštěk, Josef
Publicado no BBA Clin (2014)

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

Por Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta
Publicado em 2014

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Por Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri
Publicado em 2007

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

Por Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Publicado em 2009

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Por Guillard, Mailys, Wada, Yoshinao, Hansikova, Hana, Yuasa, Isao, Vesela, Katerina, Ondruskova, Nina, Kadoya, Machiko, Janssen, Alice, Van den Heuvel, Lambertus P. W. J., Morava, Eva, Zeman, Jiri, Wevers, Ron A., Lefeber, Dirk J.
Publicado em 2011

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

Por Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
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

Warburg Effect’s Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue

Por Fliedner, Stephanie M. J., Kaludercic, Nina, Jiang, Xiao-Sheng, Hansikova, Hana, Hajkova, Zuzana, Sladkova, Jana, Limpuangthip, Andrea, Backlund, Peter S., Wesley, Robert, Martiniova, Lucia, Jochmanova, Ivana, Lendvai, Nikoletta K., Breza, Jan, Yergey, Alfred L., Paolocci, Nazareno, Tischler, Arthur S., Zeman, Jiri, Porter, Forbes D., Lehnert, Hendrik, Pacak, Karel
Publicado em 2012

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Por de Ru, Minke H, Teunissen, Quirine GA, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Publicado em 2012

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

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Por Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Publicado em 2011

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Por Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J. H. M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Publicado em 2006

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Por Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Publicado no Orphanet J Rare Dis (2014)