Publikační aktivity ÚDMP v roce 2011

Kapitoly v monografiích

  1. Haltia M, Elleder M, Goebel HH, Lake BD, Mole SE. The NCLs: Evolution of the Concept and Classification. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 1-19.

  2. Williams RE, Goebel HH, Mole SE, Boustany R-M, Elleder M, Kohlschütter A, Monk JW, Niezen-de Boer R, Simonati A. NCL Nomenclature and Classification. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 20-23.

  3. Kohlschütter A, Williams RE, Goebel HH, Mole SE, Boustany R-M, van Diggelen OP, Elleder, M, Mink J, Niezen de Boer R, Ribeiro MG, Simonati A. NCL Diagnosis and Algorithms. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 24-34.

  4. Anderson G, Elleder, M, Goebel HH et al. Morphological Diagnostic and Pathological Considerations. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 35-49.

  5. Chang M, Cooper JD, Davidson BL, van Diggelen OP, Elleder M, Goebel HH, Golabek AA, et al. CLN2. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 80-109.

  6. Aberg L, Autti T, Cooper JD, Elleder M, Haltia M, Jalanko A, et al. CLN5. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 140-158.

  7. Alroy J, Braulke T, Cismondi IA, Cooper JD, Creegan D, Elleder M, Kitzmüller C, Kohan R, et al. CLN6. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 159-175.

  8. Elleder M, Kousi M, Lehesjoki A-E, Mole SE, Siintola E, Topcu M. CLN7. The Neuronal Ceroid Lipofuscinoses (Batten Disease), 2nd ed. Contemporary Neurology Series 444, Oxford University Press 2011, 176-188.

  9. B. Rezek, M. Krátká, E. Ukraintsev, O. Babchenko, A. Kromka, A. Brož, M. Kalbacova: Diamond as functional material for bioelectronics and biotechnology In: “New Perspectives in Biosensors Technology and Applications” Intech 2011, pp. 177-196, ISBN 978-953-307-448-1.

  10. Jirsova K. Autologní sérum v léčbě chorob postihujících povrch oka. Trendy soudobé oftalmologie. Svazek 7, str. 99-104, Galén 2011.

  11. Jirsova K. Příprava rohovky pro transplantační účely. Trendy soudobé oftalmologie. Svazek 7, str. 90-98, Galén 2011.


Články v impaktovaných časopisech

  1. Al-Fakih A, Faltus V, Jirsova K. A Decrease in the Density of HLA-DR-Positive Cells Occurs Faster in Corneas Stored in Organ Culture than under Hypothermic Conditions. Ophthalmic Res. 2011 Jun 22;47(1):39-46. IF(2010)=0,847

  2. Baldo G, Matte U, Artigalas O, Schwartz IV, Burin MG, Ribeiro E, Horovitz D, Magalhaes TP, Elleder M, Giugliani R. Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. Mol Genet Metab. 2011 Jun;103(2):197-8. IF (2010)= 3.539 

  3. Bleyer, A.J., M. Zivna, and S. Kmoch, Uromodulin-associated kidney disease. Nephron Clin Pract, 2011. 118(1): p. c31-6. IF(2010)=1,843

  4. Hejzlarova, K., M. Tesarova, A. Vrbacka-Cizkova, M. Vrbacky, H. Hartmannova, V. Kaplanova, L. Noskova, H. Kratochvilova, J. Buzkova, V. Havlickova, J. Zeman, S. Kmoch, and J. Houstek, Expression and processing of the TMEM70 protein. Biochim Biophys Acta, 2011. 1807(1): p. 144-9. IF(2010)= 5,132

  5. Jirsova K, Dudakova L, Kalasova S, Vesela V, Merjava S. The OV-TL 12/30 clone of anti-cytokeratin 7 antibody as a new marker of corneal conjunctivalization in patients with limbal stem cell deficiency. Invest Ophthalmol Vis Sci. 2011 Jun 21. IN PRESS  IF(2010)=3,464

  6. Kalbacova, M; Broz; A; Kromka, A; Babchenko, O; Kalbac, M: Controlled oxygen plasma treatment of single-walled carbon nanotube films improves osteoblast cells attachement and enhances their proliferation, CARBON Volume: 49,2926-2934, 2011 IF(2010)= 4,504

  7. Kopecka, J., J. Krijt, K. Rakova, and V. Kozich, Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones. J Inherit Metab Dis. 2011 Feb;34(1):39-48. IF(2010)=3,808

  8. Kouns NA, Nakielna J, Behensky F, Krause MW, Kostrouch Z, Kostrouchova M. NHR-23 dependent collagen and hedgehog-related genes required for molting. Biochem Biophys Res Commun. 2011 Oct 7;413(4):515-20. IF(2010)=2,595

  9. Krabcova I, Studeny P, Jirsova K. Endothelial Cell Density Before and After the Preparation of Corneal Lamellae for Descemet Membrane Endothelial Keratoplasty With a Stromal Rim. Cornea. 2011 Dec;30(12):1436-41. IF(2010)=1.762

  10. Krijt, J., J. Kopecka, A. Hnizda, S. Moat, L.A. Kluijtmans, P. Mayne, and V. Kozich, Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency. J Inherit Metab Dis. 2011 Feb;34(1):49-55. IF(2010)=3,359

  11. Liskova P, Colclough T, Hart-Holden N, Chakarova CF, O'Grady A, Kondrova L, Skalicka P, Diblik P, Hardcastle AJ. Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family. Acta Ophthalmol IN PRESS  IF(2010)=2,809

  12. Magner, M., L. Krupkova, T. Honzik, J. Zeman, J. Hyanek, and V. Kozich, Vascular presentation of cystathionine beta-synthase deficiency in adulthood. J Inherit Metab Dis. 2011 Feb;34(1):33-7 IF(2010)=3,808

  13. McHugh DM, Cameron CA, Abdenur JE, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar;13(3):230-54. IF (2010)=5,280

  1. Merjava S, Malinova E, Liskova P, Filipec M, Zemanova Z, Michalova K, Jirsova K. Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium. Histochem Cell Biol. 2011. Jul;136(1):93-101. IF (2010)=4,727

  2. Merjava S, Brejchova K*, Vernon A, Daniels J.T., Jirsova K*. Cytokeratin 8 is expressed in human corneo‑conjunctival epithelium, particularly in limbal epithelial cells. Invest Ophthalmol Vis Sci. 2011 Feb 9;52(2):787-94 IF(2010)= 3,466

  3. Merjava S, Neuwirth A, Tanzerova M, Jirsova K. The spectrum of cytokeratins expressed in the adult human cornea, limbus and perilimbal conjunctiva. Histol. Histopathol. 2011, 26: 323-331 IF(2010)=2,502

  4. Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis. Am J Hum Genet. 2011 Aug 12;89(2):241-52. Epub 2011 Aug 4. IF (2010)=11,680

  5. Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N; HYPEST, Shaw-Hawkins S, Caulfield MJ; BRIGHT, Khusnutdinova E, Kožich V, Munroe PB, Laan M. Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans. Hum Mutat. 2011 Apr 21. IN PRESS IF (2010)=5,956

  6. Sebesta I, Stiburkova B, Bartl J, Ichida K, Hosoyamada M, Taylor J, Marinaki A. Diagnostic tests for primary renal hypouricemia. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6. IF (2010)=1,132

  7. Souček O, Ješina P, Zeman J, Elleder M, Hůlková H, Lukáš Z. Histopatologická diagnostika mitochondriálních myopatií – indikace a přínos svalové biopsie. Česk Slov Neurol N; 2011; 74/107(4): 428-435 IF(2010) = 0,316

  8. Svobodová E, Mrázová L, Lukšan O, Elstein D, Zimran A, Stolnaya L, Minks J, Eberová J, Dvořáková L, Jirsa M, Hřebíček M. Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes. Blood Cells Mol Dis. 2011 Mar 15;46(3):239-45. IF (2010)=2,716

  9. Stiburkova B, Ichida K, Sebesta I. Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. Mol Genet Metab. 2011 Apr;102(4):430-5. IF (2010)=3,808

  10. Vliet, L.K., T.G. Wilkinson, 2nd, N. Duval, G. Vacano, C. Graham, M. Zikanova, V. Skopova, V. Baresova, A. Hnizda, S. Kmoch, and D. Patterson, Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency. Mol Genet Metab. 2011 Jan;102(1):61-8. IF(2010)=3,539

  11. Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ. Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome). Invest Ophthalmol Vis Sci. 2011 Aug 24;52(9):6720-8. IF(2010)=3,466

  12. Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlaskova H, Kothare SV. Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat. Eur J Paediatr Neurol. 2011 Jan;15(1):84-7 IF(2010)=1,994

Ostatní publikace

 

  1. Fowler B, Blom HJ, Kozich V. Foreword to special issue on homocysteine disorders. J Inherit Metab Dis (2011) 34:1-2.

  2. Rezek, B., Ukraintsev E., Kratka M., Kromka A., Broz A.,Kalbacova M. Biomedicínské aplikace diamantových vrstev. Československý časopis pro fyziku 2011, 61 (2) 92-100.

  3.  M.Magner, K.Vinšová, M.Tesařová, Z.Hájková, H.Hansíková, L.Wenchich, P.Ješina, V.Smolka, T.Adam, M.Vaněčková, J.Zeman a T.Honzík. Two patiens with clinically distinct manifestation of pyruvate degydrogenase deficiency due to mutation in PDHA1 gene. Prague Medical Report, 2011, 112 (1): 18-28

  4. P.Ješina, J.Zeman: Mukopolysacharidózy. Medicína po promoci, roč. 12, č. 5, 2011

  5. P.Ješina, M.Magner, H.Poupětová, J.Honzíková, L.Dvořáková, V.Malinová, E.Hrubá, A.Hlavatá, T.Honzík, K.Veselá, P.Sedláček, J.Starý a J.Zeman: Mukopolysacharidóza I – klinické projevy u 24 dětí z České republiky a Slovenska. Čes-slov Pediatr 2011; 66(4); 6-11

  6. T. Paleček, P. Kuchynka, E. Němeček, M. Mašek, M. Elleder, T. Honzík, A. Linhart. Nesarkomerické formy hypertrofické kardiomyopatie v dospělosti. Kardiol Rev 2011, 13(4): 210-220

Patent

 

  1. Rezek, Bohuslav; Michalíková, Lenka; Kromka, Alexander; Kalbáčová, Marie; Kmoch, Stanislav; Grausová, Lubica; Bacakova, Lucie; Vaněček, Milan; Kočka, Jan. Method of making arranged cell structures. European Patent No. 2288699, published in European Patent Bulletin 28. December 2011, European Patent Office Munich, Germany 2011.


(Aktualizováno dne 31. 1. 2012)