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Results: 1 to 20 of 310

1.

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders.

Sládková J, Spáčilová J, Čapek M, Tesařová M, Hansíková H, Honzík T, Martínek J, Zámečník J, Kostková O, Zeman J.

Ultrastruct Pathol. 2015 Jul 27:1-11. [Epub ahead of print]

PMID:
26214044
2.

Association of Interleukin-10 promoter polymorphisms with neurosyphilis.

Pastuszczak M, Jakiela B, Jaworek AK, Wypasek E, Zeman J, Wojas-Pelc A.

Hum Immunol. 2015 Jul;76(7):469-72. doi: 10.1016/j.humimm.2015.06.010. Epub 2015 Jun 19.

PMID:
26100683
3.

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H.

Prague Med Rep. 2015;116(2):73-86. doi: 10.14712/23362936.2015.48.

PMID:
26093664
4.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Jun 16. [Epub ahead of print] No abstract available.

PMID:
26077421
5.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Jun 16. [Epub ahead of print] No abstract available.

PMID:
26077420
6.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

J Inherit Metab Dis. 2015 May 30. [Epub ahead of print]

PMID:
26025547
7.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia Cazorla A.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875216
8.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Apr 15. [Epub ahead of print]

PMID:
25875215
9.

Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.

Vanek P, Homolkova H, Benes V, Zeman J.

Eur Spine J. 2015 Mar 21. [Epub ahead of print]

PMID:
25794700
10.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
11.

[Surgical treatment of intra-articular calcaneal fractures in children].

Zeman J, Matějka J.

Acta Chir Orthop Traumatol Cech. 2014;81(6):407-11. Czech.

PMID:
25651296
12.

[Psychiatric disturbances in five patients with MELAS syndrome].

Magner M, Honzik T, Tesarova M, Dvorakova V, Hansiková H, Raboch J, Zeman J.

Psychiatr Pol. 2014 Sep-Oct;48(5):1035-45. Polish.

PMID:
25639022
13.

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.

Vondráčková A, Veselá K, Zeman J, Tesařová M.

Methods Mol Biol. 2015;1264:351-67. doi: 10.1007/978-1-4939-2257-4_31.

PMID:
25631028
14.

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

Rodinová M, Trefilová E, Honzík T, Tesařová M, Zeman J, Hansíková H.

Folia Biol (Praha). 2014;60(6):268-74.

15.

Aperiodic compression and reconstruction of real-world material systems based on Wang tiles.

Doškář M, Novák J, Zeman J.

Phys Rev E Stat Nonlin Soft Matter Phys. 2014 Dec;90(6):062118. Epub 2014 Dec 11.

PMID:
25615055
16.

Changes in the mechanical parameters of hair in a group of women in reproductive age.

Jelen K, Skřontová M, Šimkova L, Zeman J, Tlapáková E, Fanta O.

Neuro Endocrinol Lett. 2014;35(6):481-9.

PMID:
25433839
17.

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava-Kozicz E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18.

PMID:
25326274
18.

In vivo effects of focused shock waves on tumor tissue visualized by fluorescence staining techniques.

Lukes P, Zeman J, Horak V, Hoffer P, Pouckova P, Holubova M, Hosseini SH, Akiyama H, Sunka P, Benes J.

Bioelectrochemistry. 2015 Jun;103:103-10. doi: 10.1016/j.bioelechem.2014.08.019. Epub 2014 Aug 29.

PMID:
25200989
19.

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

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.

Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.

20.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

PMID:
25066056
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